ClinVar Miner

Submissions for variant NM_015910.7(WDPCP):c.1263A>C (p.Leu421Phe)

gnomAD frequency: 0.00141  dbSNP: rs189817127
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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 RCV000537132 SCV000636509 likely benign Bardet-Biedl syndrome 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506326 SCV002811214 likely benign Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 2021-07-12 criteria provided, single submitter clinical testing

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