ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12180C>T (p.Ala4060=)

gnomAD frequency: 0.00001  dbSNP: rs754694929
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001483248 SCV001687633 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356741 SCV002657341 likely benign Inborn genetic diseases 2018-01-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics RCV002489121 SCV002804206 likely benign Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 2022-05-10 criteria provided, single submitter clinical testing

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