ClinVar Miner

Submissions for variant NM_015910.7(WDPCP):c.1916-18A>G

gnomAD frequency: 0.00032  dbSNP: rs201068492
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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 RCV002092383 SCV002324716 likely benign Bardet-Biedl syndrome 2023-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494003 SCV002795484 likely benign Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 2021-09-20 criteria provided, single submitter clinical testing

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