ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2516G>T (p.Gly839Val)

dbSNP: rs1554888939
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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 Network, NIH RCV000625971 SCV000746570 likely pathogenic Kleefstra syndrome 1 2017-01-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV000625971 SCV001525744 likely pathogenic Kleefstra syndrome 1 2018-07-26 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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