ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2149A>G (p.Lys717Glu)

dbSNP: rs1951090718
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001034057 SCV001197382 likely benign Kleefstra syndrome 1 2022-11-15 criteria provided, single submitter clinical testing

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