ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1792-21_1800del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003233382 SCV003932197 pathogenic Kleefstra syndrome 1 2023-03-10 criteria provided, single submitter clinical testing PVS1, PM2, PM6

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