ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.871C>T (p.Arg291Ter)

dbSNP: rs137852714
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000003792 SCV000807330 pathogenic Kleefstra syndrome 1 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found twice in our laboratory in unrelated probands: a 2-year-old male with developmental delay, hypotonia, poor coordination, microcephaly, dysmorphism; & de novo in a 1-year-old male with global delays, dysmorphisms, advanced bone age.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000003792 SCV002515841 pathogenic Kleefstra syndrome 1 2022-05-06 criteria provided, single submitter research ACMG codes: PVS1_Strong, PS2, PS4M, PM2
OMIM RCV000003792 SCV000023957 pathogenic Kleefstra syndrome 1 2009-09-01 no assertion criteria provided literature only
GeneReviews RCV000003792 SCV000087011 not provided Kleefstra syndrome 1 no assertion provided literature only

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