ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1413A>G (p.Val471=)

dbSNP: rs35294865
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001466443 SCV001670445 likely benign Bardet-Biedl syndrome 2022-08-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495681 SCV002802631 likely benign Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2022-05-04 criteria provided, single submitter clinical testing

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