ClinVar Miner

Submissions for variant NM_015910.7(WDPCP):c.634-12T>A

gnomAD frequency: 0.00002  dbSNP: rs779141559
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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 RCV002162923 SCV002414175 likely benign Bardet-Biedl syndrome 2023-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500090 SCV002808075 likely benign Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 2021-12-05 criteria provided, single submitter clinical testing

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