ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1011G>A (p.Leu337=)

gnomAD frequency: 0.00001  dbSNP: rs767239768
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001425726 SCV001628363 likely benign Bardet-Biedl syndrome 2023-10-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706134 SCV005216484 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004733301 SCV005356499 likely benign BBS2-related disorder 2020-07-31 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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