ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.612+18G>A

gnomAD frequency: 0.00009  dbSNP: rs200364314
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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 RCV002097387 SCV002387560 likely benign Bardet-Biedl syndrome 2025-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498318 SCV002806388 likely benign Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-11-13 criteria provided, single submitter clinical testing

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