ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.382T>C (p.Leu128=)

gnomAD frequency: 0.00002  dbSNP: rs374060552
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001485046 SCV001689471 likely benign Bardet-Biedl syndrome 2024-08-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478950 SCV002795125 likely benign Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-12-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274370 SCV001458474 likely benign Bardet-Biedl syndrome 2 2020-09-16 no assertion criteria provided clinical testing

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