ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.6C>A (p.Ala2=)

dbSNP: rs143592479
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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 RCV001419785 SCV001622046 likely benign Bardet-Biedl syndrome 2024-03-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004743470 SCV005358140 likely benign BBS1-related disorder 2024-05-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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