ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.23C>T (p.Ala8Val)

gnomAD frequency: 0.00001  dbSNP: rs375391530
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000638400 SCV000895977 uncertain significance Kleefstra syndrome 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000638400 SCV001730665 benign Kleefstra syndrome 1 2022-09-16 criteria provided, single submitter clinical testing

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