ClinVar Miner

Submissions for variant NM_007375.4(TARDBP):c.403-5T>C

gnomAD frequency: 0.00003  dbSNP: rs372872536
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002219199 SCV002377136 likely benign Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia 2023-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003893212 SCV004709413 likely benign TARDBP-related disorder 2020-09-02 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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