ClinVar Miner

Submissions for variant NM_015910.7(WDPCP):c.826-13T>C

gnomAD frequency: 0.00024  dbSNP: rs368439537
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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 RCV002215879 SCV002371963 likely benign Bardet-Biedl syndrome 2023-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498267 SCV002804595 likely benign Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 2022-04-09 criteria provided, single submitter clinical testing

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