ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.810T>C (p.Asp270=)

gnomAD frequency: 0.00001  dbSNP: rs1309546092
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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 RCV002215337 SCV002367023 likely benign Bardet-Biedl syndrome 2024-03-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494125 SCV002803359 likely benign Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-10-26 criteria provided, single submitter clinical testing

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