ClinVar Miner

Submissions for variant NM_015910.7(WDPCP):c.1941G>A (p.Gly647=)

gnomAD frequency: 0.00001  dbSNP: rs765502945
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002138913 SCV002466460 likely benign Bardet-Biedl syndrome 2022-10-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500318 SCV002812588 likely benign Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 2022-02-24 criteria provided, single submitter clinical testing

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