ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.963G>A (p.Thr321=)

gnomAD frequency: 0.00001  dbSNP: rs748014865
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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 RCV001895556 SCV002154556 likely benign Bardet-Biedl syndrome 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005016739 SCV005644037 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-03-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538577 SCV004709072 likely benign BBS2-related disorder 2023-12-20 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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