ClinVar Miner

Submissions for variant NM_016333.4(SRRM2):c.205C>T (p.Arg69Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004759514 SCV005368104 likely pathogenic Intellectual developmental disorder, autosomal dominant 72 2024-06-18 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP

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