ClinVar Miner

Submissions for variant NC_000001.11:g.(?_243415682)_(243415849_?)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 RCV001032495 SCV001195802 pathogenic Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2019-10-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is an out-of-frame deletion of the genomic region encompassing exons 14 of the SDCCAG8 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with SDCCAG8-related conditions. Loss-of-function variants in SDCCAG8 are known to be pathogenic (PMID: 20835237).

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