ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2494-8_2494-5del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002872814 SCV003243448 likely benign Amyotrophic lateral sclerosis type 21 2023-12-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536428 SCV004725546 likely benign MATR3-related disorder 2023-06-07 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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