ClinVar Miner

Submissions for variant NM_015910.7(WDPCP):c.210G>A (p.Ala70=)

gnomAD frequency: 0.00001  dbSNP: rs961809737
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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 RCV001418289 SCV001620514 likely benign Bardet-Biedl syndrome 2022-06-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495275 SCV002803561 likely benign Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 2021-07-03 criteria provided, single submitter clinical testing

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