ClinVar Miner

Submissions for variant NM_015910.7(WDPCP):c.385-12A>G

gnomAD frequency: 0.00012  dbSNP: rs528402153
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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 RCV002145706 SCV002454917 likely benign Bardet-Biedl syndrome 2023-08-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505806 SCV002804432 likely benign Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 2021-12-31 criteria provided, single submitter clinical testing

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