ClinVar Miner

Submissions for variant NC_000001.10:g.(?_243433387)_(243437978_?)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 RCV004584123 SCV005066519 pathogenic Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-10-05 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2-4 of the SDCCAG8 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in SDCCAG8 are known to be pathogenic (PMID: 20835237, 22190896). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. For these reasons, this variant has been classified as Pathogenic.

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