ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1953T>C (p.Asn651=)

gnomAD frequency: 0.00008  dbSNP: rs200621431
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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 RCV001239950 SCV001412859 likely benign Bardet-Biedl syndrome 2026-01-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000261769 SCV000338716 uncertain significance not provided 2016-01-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833351 SCV002089255 uncertain significance Bardet-Biedl syndrome 2 2019-10-28 no assertion criteria provided clinical testing

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