ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.1826T>C (p.Ile609Thr)

dbSNP: rs2047933165
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001283724 SCV001424309 likely pathogenic Charcot-Marie-Tooth disease axonal type 2O 2020-07-20 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV001283724 SCV002581522 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2022-04-05 criteria provided, single submitter clinical testing

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