ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly) (rs201272954)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989263 SCV001139518 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2019-05-28 criteria provided, single submitter clinical testing
Genesis Genome Database RCV000856950 SCV000999514 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research
Genesis Genome Database RCV000856951 SCV000999515 uncertain significance Charcot-Marie-Tooth disease, type I 2019-08-14 no assertion criteria provided research
Genesis Genome Database RCV000856952 SCV000999516 uncertain significance Distal spinal muscular atrophy 2019-08-14 no assertion criteria provided research
Genesis Genome Database RCV000856953 SCV000999517 uncertain significance Charcot-Marie-Tooth disease type 5 2019-08-14 no assertion criteria provided research
Genesis Genome Database RCV000856954 SCV000999518 uncertain significance Autosomal dominant distal hereditary motor neuropathy 2019-08-14 no assertion criteria provided research

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