ClinVar Miner

Submissions for variant NM_020198.3(CCDC47):c.1189C>T (p.Arg397Ter) (rs1269750663)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health RCV000754581 SCV000809006 likely pathogenic Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair 2018-09-24 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091884 SCV001248147 pathogenic not provided 2019-05-01 criteria provided, single submitter clinical testing
OMIM RCV000735842 SCV000863994 pathogenic Trichohepatoneurodevelopmental syndrome 2019-01-02 no assertion criteria provided literature only

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