ClinVar Miner

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

dbSNP: rs113676865
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514935 SCV000610630 likely benign not provided 2017-05-03 criteria provided, single submitter clinical testing
Invitae RCV001084545 SCV000636604 benign Kleefstra syndrome 1 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514935 SCV002564092 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing EHMT1: BS1

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