ClinVar Miner

Submissions for variant NM_016333.4(SRRM2):c.1585C>T (p.Gln529Ter)

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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 RCV004759588 SCV005368278 likely pathogenic Intellectual developmental disorder, autosomal dominant 72 2022-07-13 criteria provided, single submitter clinical testing Criteria applied: PVS1_STR,PM2_SUP,PP3

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