ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3392A>G (p.Tyr1131Cys)

gnomAD frequency: 0.00005  dbSNP: rs753933684
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000800015 SCV000939712 likely benign Kleefstra syndrome 1 2024-08-23 criteria provided, single submitter clinical testing
Laboratory of Genetics, Children's Clinical University Hospital Latvia RCV000800015 SCV005045882 benign Kleefstra syndrome 1 criteria provided, single submitter curation

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