ClinVar Miner

Submissions for variant NM_015910.7(WDPCP):c.123G>A (p.Leu41=)

dbSNP: rs779322047
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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 RCV001419770 SCV001622031 likely benign Bardet-Biedl syndrome 2023-10-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499900 SCV002811357 likely benign Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 2021-09-23 criteria provided, single submitter clinical testing

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