ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1369+9C>T

gnomAD frequency: 0.00794  dbSNP: rs146125583
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082217 SCV000114166 benign not specified 2013-10-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082217 SCV000247266 uncertain significance not specified 2014-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000387937 SCV000636570 benign Kleefstra syndrome 1 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002262626 SCV002546136 benign not provided 2024-08-01 criteria provided, single submitter clinical testing EHMT1: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003974986 SCV004795853 benign EHMT1-related disorder 2019-05-03 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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