ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.534+20T>C

gnomAD frequency: 0.00027  dbSNP: rs369579609
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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 RCV002170252 SCV002335816 likely benign Bardet-Biedl syndrome 2024-06-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494050 SCV002795755 likely benign Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2022-01-13 criteria provided, single submitter clinical testing

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