ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.220C>G (p.Gln74Glu)

gnomAD frequency: 0.00006  dbSNP: rs531716541
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698182 SCV000826830 benign Kleefstra syndrome 1 2023-11-28 criteria provided, single submitter clinical testing
GeneDx RCV001786411 SCV002029015 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing

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