ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.2322C>T (p.Ala774=)

gnomAD frequency: 0.00037  dbSNP: rs145435891
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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 RCV000251430 SCV000316947 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000866425 SCV001007515 likely benign Bardet-Biedl syndrome 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500939 SCV002808549 likely benign Bardet-Biedl syndrome 9 2022-03-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000251430 SCV003839252 likely benign not specified 2022-09-13 no assertion criteria provided clinical testing

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