ClinVar Miner

Submissions for variant NM_015910.7(WDPCP):c.252G>T (p.Glu84Asp)

gnomAD frequency: 0.00028  dbSNP: rs201399904
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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 RCV001421933 SCV001624465 likely benign Bardet-Biedl syndrome 2023-08-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499908 SCV002807334 likely benign Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 2021-11-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965791 SCV004781158 likely benign WDPCP-related disorder 2021-07-14 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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