ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2868-1G>A

dbSNP: rs137852722
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics, Children's Clinical University Hospital Latvia RCV000055963 SCV005045870 pathogenic Kleefstra syndrome 1 criteria provided, single submitter curation
GeneReviews RCV000055963 SCV000087003 not provided Kleefstra syndrome 1 no assertion provided literature only

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