ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.1907A>G (p.Asp636Gly)

gnomAD frequency: 0.00001  dbSNP: rs749994173
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230947 SCV001403449 likely benign Charcot-Marie-Tooth disease dominant intermediate B 2023-08-24 criteria provided, single submitter clinical testing
GeneDx RCV001773523 SCV001992667 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity Omics RCV001773523 SCV003830495 uncertain significance not provided 2021-10-25 criteria provided, single submitter clinical testing

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