ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3324G>T (p.Ala1108=)

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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 RCV003056500 SCV003447586 likely benign Kleefstra syndrome 1 2023-01-24 criteria provided, single submitter clinical testing

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