ClinVar Miner

Submissions for variant NM_005121.3(MED13):c.1513C>T (p.Gln505Ter)

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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 RCV003314064 SCV004013153 pathogenic Intellectual developmental disorder 61 2023-04-27 criteria provided, single submitter clinical testing PVS1, PS2, PM2

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