ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3356T>C (p.Val1119Ala)

dbSNP: rs897615767
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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 RCV000813442 SCV000953802 benign Kleefstra syndrome 1 2023-11-27 criteria provided, single submitter clinical testing

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