ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro)

gnomAD frequency: 0.00068  dbSNP: rs115328064
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000199008 SCV000255140 likely benign Bardet-Biedl syndrome 2024-01-30 criteria provided, single submitter clinical testing
Counsyl RCV000665496 SCV000789630 uncertain significance Bardet-Biedl syndrome 2 2017-02-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818493 SCV002067121 uncertain significance not specified 2018-06-06 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001729451 SCV001978806 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729451 SCV001980425 uncertain significance not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000665496 SCV002089270 likely benign Bardet-Biedl syndrome 2 2020-02-25 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004530199 SCV004749511 likely benign BBS2-related disorder 2020-08-26 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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