ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6843-5del

dbSNP: rs34769225
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811560 SCV001156810 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068748 SCV002447918 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2021-11-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233917 SCV003932058 benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233918 SCV003932059 benign Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579450 SCV001807289 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001579450 SCV001924578 benign not specified no assertion criteria provided clinical testing

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