ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1394C>T (p.Ala465Val)

gnomAD frequency: 0.00001  dbSNP: rs987954303
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034897 SCV001198200 benign Kleefstra syndrome 1 2023-08-27 criteria provided, single submitter clinical testing
GeneDx RCV001549512 SCV001769677 likely benign not provided 2021-03-18 criteria provided, single submitter clinical testing

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