ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.483G>A (p.Glu161=)

gnomAD frequency: 0.00001  dbSNP: rs745832920
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001467631 SCV001671658 likely benign Bardet-Biedl syndrome 2024-01-20 criteria provided, single submitter clinical testing

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