ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.3053dup (p.Val1019fs)

dbSNP: rs2150128669
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001535857 SCV001752470 likely pathogenic Orofaciodigital syndrome type 6; Joubert syndrome 17 2021-06-30 criteria provided, single submitter clinical testing

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