ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.8202G>A (p.Val2734=)

gnomAD frequency: 0.00009  dbSNP: rs202023896
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000526287 SCV000651670 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000600529 SCV000719566 likely benign not specified 2017-05-24 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.
Ambry Genetics RCV002316576 SCV000851274 likely benign Inborn genetic diseases 2016-10-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173182 SCV001336262 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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