ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.3700-6C>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003002240 SCV003293016 likely benign Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2024-01-19 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004999847 SCV005621397 uncertain significance not provided 2023-10-10 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) This variant has been seen where an alternate explanation for disease was also identified, suggesting this variant may not cause disease. Computational tools yielded inconclusive predictions regarding the effect of this variant on RNA splicing.

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