ClinVar Miner

Submissions for variant NM_015910.7(WDPCP):c.1492T>G (p.Cys498Gly)

gnomAD frequency: 0.00003  dbSNP: rs758621800
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Endocrinology Laboratory, Christian Medical College RCV001823856 SCV002073525 uncertain significance Bardet-Biedl syndrome 15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482380 SCV002792330 uncertain significance Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 2022-01-11 criteria provided, single submitter clinical testing

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