ClinVar Miner

Submissions for variant NM_003611.2(OFD1):c.-359-?_*253+?dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226779 SCV000287949 uncertain significance Familial aplasia of the vermis; Orofaciodigital syndrome I 2016-03-08 criteria provided, single submitter clinical testing A gross duplication of the genomic region encompassing the full coding sequence of the OFD1 gene has been identified. This variant has not been reported in the literature. In summary, this is a whole gene duplication with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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