ClinVar Miner

Submissions for variant NC_000011.10:g.(?_66519607)_(66521386_?)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 RCV001033799 SCV001197106 pathogenic Bardet-Biedl syndrome 2021-11-22 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 8-9 of the BBS1 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 BBS1 are known to be pathogenic (PMID: 12118255). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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