ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.342T>C (p.Phe114=)

gnomAD frequency: 0.00001  dbSNP: rs1554846429
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000638407 SCV000759918 likely benign Kleefstra syndrome 1 2022-03-19 criteria provided, single submitter clinical testing

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