ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.159G>T (p.Glu53Asp)

gnomAD frequency: 0.00003  dbSNP: rs202066668
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193456 SCV000247267 likely benign not specified 2015-07-21 criteria provided, single submitter clinical testing
Invitae RCV000367897 SCV000759913 likely benign Kleefstra syndrome 1 2023-07-27 criteria provided, single submitter clinical testing
GeneDx RCV001564441 SCV001787609 likely benign not provided 2020-09-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001564441 SCV004164048 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing EHMT1: BP4

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