ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.8216C>T (p.Pro2739Leu)

dbSNP: rs866647743
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Total submissions: 2
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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 RCV001262938 SCV001440996 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2019-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV003388843 SCV004100779 uncertain significance Intellectual disability, autosomal dominant 13 2023-10-19 criteria provided, single submitter clinical testing Criteria applied: PM2_SUP,PP2

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