ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1148C>T (p.Ser383Leu)

gnomAD frequency: 0.00007  dbSNP: rs771654748
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000320747 SCV000478916 uncertain significance Kleefstra syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000320747 SCV001534319 benign Kleefstra syndrome 1 2024-12-10 criteria provided, single submitter clinical testing

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