ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.2746+16del

dbSNP: rs751625561
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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 RCV001519138 SCV001727950 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495823 SCV002803570 benign Orofaciodigital syndrome type 6; Joubert syndrome 17 2021-07-26 criteria provided, single submitter clinical testing

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