ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.519C>T (p.Ala173=)

gnomAD frequency: 0.00001  dbSNP: rs767855452
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000915148 SCV001060345 likely benign Kleefstra syndrome 1 2023-06-25 criteria provided, single submitter clinical testing

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