ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.479+20T>C

gnomAD frequency: 0.00010  dbSNP: rs756451521
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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 RCV002106551 SCV002437741 likely benign Bardet-Biedl syndrome 2024-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494376 SCV002795754 likely benign Bardet-Biedl syndrome 1 2021-12-30 criteria provided, single submitter clinical testing

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