ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.13515+9G>A

gnomAD frequency: 0.00009  dbSNP: rs374678076
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441101 SCV000523046 likely benign not specified 2017-07-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174058 SCV001337178 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001467479 SCV001671503 likely benign Charcot-Marie-Tooth disease axonal type 2O 2022-09-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003972619 SCV004791579 likely benign DYNC1H1-related condition 2020-03-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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