ClinVar Miner

Submissions for variant NM_015557.3(CHD5):c.940G>T (p.Glu314Ter)

dbSNP: rs754586094
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics, University Hospital Essen RCV001376657 SCV001478002 likely pathogenic Seizure 2021-01-18 criteria provided, single submitter research
OMIM RCV002246280 SCV002520565 pathogenic Parenti-mignot neurodevelopmental syndrome 2022-05-07 no assertion criteria provided literature only

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