ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3180+10G>T

dbSNP: rs113676865
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082229 SCV000114178 benign not specified 2013-10-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000357220 SCV000636605 benign Kleefstra syndrome 1 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001561404 SCV001784004 likely benign not provided 2018-07-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001561404 SCV005224883 likely benign not provided criteria provided, single submitter not provided

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