ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.1010+4_1010+7dup

dbSNP: rs1222378139
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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 RCV002145957 SCV002459692 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2021-09-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531495 SCV004738545 likely benign SETX-related disorder 2019-09-11 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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