ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.253C>T (p.Leu85=)

gnomAD frequency: 0.00002  dbSNP: rs748727758
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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 RCV000933675 SCV001079381 likely benign Bardet-Biedl syndrome 2023-10-25 criteria provided, single submitter clinical testing

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