ClinVar Miner

Submissions for variant NM_006734.4(HIVEP2):c.4655del (p.Pro1552fs)

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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 RCV003592051 SCV004244510 likely pathogenic Intellectual disability, autosomal dominant 43 2023-11-22 criteria provided, single submitter clinical testing PVS1, PM2

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