ClinVar Miner

Submissions for variant NC_000001.11:g.(?_242268256)_(243843190_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817924 SCV000958511 pathogenic Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2018-11-02 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SDCCAG8 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 SDCCAG8-related disease. Loss-of-function variants in SDCCAG8 are known to be pathogenic (PMID: 20835237). For these reasons, this variant has been classified as Pathogenic.

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