ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3541-13TC[3]

dbSNP: rs10667884
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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) RCV000082233 SCV000114182 benign not specified 2014-09-25 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000082233 SCV000314445 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001510480 SCV001717523 benign Kleefstra syndrome 1 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001610382 SCV001833406 benign not provided 2020-03-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001510480 SCV002801984 benign Kleefstra syndrome 1 2021-08-17 criteria provided, single submitter clinical testing

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