ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1081-18G>T

gnomAD frequency: 0.00166  dbSNP: rs142558653
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588493 SCV000699652 likely benign not provided 2016-01-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001523055 SCV001732706 benign Bardet-Biedl syndrome 2024-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491172 SCV002798457 likely benign Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-08-25 criteria provided, single submitter clinical testing

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