ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.1392+7G>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 RCV003072481 SCV003468064 likely benign Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2023-11-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003963603 SCV004784455 likely benign DCTN1-related disorder 2023-04-12 no assertion criteria provided 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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