ClinVar Miner

Submissions for variant NM_020198.3(CCDC47):c.811C>T (p.Arg271Ter)

gnomAD frequency: 0.00001  dbSNP: rs749027804
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Total submissions: 2
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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 RCV000754583 SCV000809008 likely pathogenic Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair 2018-09-24 criteria provided, single submitter research
OMIM RCV000735840 SCV000863992 pathogenic Trichohepatoneurodevelopmental syndrome 2019-01-02 no assertion criteria provided literature only

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