ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.824-4T>C

dbSNP: rs544787491
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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 RCV000903958 SCV001048450 likely benign Kleefstra syndrome 1 2024-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001585864 SCV001812886 likely benign not provided 2020-09-28 criteria provided, single submitter clinical testing

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