ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.2091T>G (p.Ala697=)

dbSNP: rs1412519720
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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 RCV002180341 SCV002341661 likely benign Bardet-Biedl syndrome 2023-05-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733462 SCV005350635 likely benign BBS2-related disorder 2019-08-09 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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