ClinVar Miner

Submissions for variant NC_000010.11:g.(?_88989499)_(89247668_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001031843 SCV001195150 pathogenic Autoimmune lymphoproliferative syndrome type 1 2019-05-05 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the FAS gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with FAS-related conditions. Loss-of-function variants in FAS are known to be pathogenic (PMID: 10875918, 22237435). For these reasons, this variant has been classified as Pathogenic.

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