ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1510A>G (p.Asn504Asp)

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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 RCV002858459 SCV003234904 likely benign Kleefstra syndrome 1 2022-09-07 criteria provided, single submitter clinical testing

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