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Missense variants in TMEM67 in a patient with Joubert syndrome.

ABSTRACT: We present a patient with a clinical diagnosis of Joubert syndrome with COACH phenotype who carries two TMEM67 variants of uncertain significance (VUS). One VUS can be reclassified as "likely pathogenic" by adding clinical data. As genetic testing becomes more accessible, more VUS will require clinical correlation for accurate classification.

SUBMITTER: Huynh JM

PROVIDER: S-EPMC6230611 | biostudies-other | 2018 Nov

REPOSITORIES: biostudies-other

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Missense variants in TMEM67 in a patient with Joubert syndrome.

Huynh Julie M JM Galindo Maureen M Laukaitis Christina M CM

Clinical case reports 20181004 11

We present a patient with a clinical diagnosis of Joubert syndrome with COACH phenotype who carries two TMEM67 variants of uncertain significance (VUS). One VUS can be reclassified as "likely pathogenic" by adding clinical data. As genetic testing becomes more accessible, more VUS will require clinical correlation for accurate classification. ...[more]

PMID: 30455918

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