ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.57C>G (p.Ala19=)

dbSNP: rs755026677
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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 RCV000922093 SCV001067511 likely benign Bardet-Biedl syndrome 2023-11-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274031 SCV001457736 uncertain significance Bardet-Biedl syndrome 1 2020-04-14 no assertion criteria provided clinical testing

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