ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.525A>G (p.Gly175=)

gnomAD frequency: 0.00045  dbSNP: rs34191306
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178373 SCV000230442 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083114 SCV001003380 likely benign Bardet-Biedl syndrome 2024-08-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273915 SCV001457509 likely benign Bardet-Biedl syndrome 2 2020-06-03 no assertion criteria provided clinical testing

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