ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.1284C>T (p.Thr428=)

gnomAD frequency: 0.02858  dbSNP: rs6964382
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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 RCV000247073 SCV000316937 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001095290 SCV000468795 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 RCV000343644 SCV000636552 benign Bardet-Biedl syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001706405 SCV001898914 benign not provided 2021-06-10 criteria provided, single submitter clinical testing

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