ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.138A>G (p.Leu46=)

gnomAD frequency: 0.00001  dbSNP: rs1590754166
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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 RCV000872914 SCV001014807 likely benign Bardet-Biedl syndrome 2023-06-05 criteria provided, single submitter clinical testing

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