ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3218G>A (p.Cys1073Tyr)

dbSNP: rs137852726
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000003791 SCV000023956 pathogenic Kleefstra syndrome 1 2009-09-01 no assertion criteria provided literature only
GeneReviews RCV000003791 SCV000087006 not provided Kleefstra syndrome 1 no assertion provided literature only

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