ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.1029A>G (p.Gly343=)

gnomAD frequency: 0.02890  dbSNP: rs35195153
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244853 SCV000316931 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001095243 SCV000468791 likely benign Bardet-Biedl syndrome 9 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000283196 SCV000636550 benign Bardet-Biedl syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001709565 SCV001938591 benign not provided 2021-06-10 criteria provided, single submitter clinical testing

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