ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1437T>C (p.Pro479=)

gnomAD frequency: 0.00001  dbSNP: rs747415803
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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 RCV000864792 SCV001005650 likely benign Bardet-Biedl syndrome 2023-10-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273909 SCV001457503 uncertain significance Bardet-Biedl syndrome 2 2020-01-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004733069 SCV005367308 likely benign BBS2-related disorder 2024-04-09 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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