ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5781+12dup

gnomAD frequency: 0.24271  dbSNP: rs3831154
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000081699 SCV000312313 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001844032 SCV000477812 benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000278002 SCV000477813 benign Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001596953 SCV001830296 benign not provided 2021-05-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055211 SCV002421960 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001844032 SCV003931299 benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233104 SCV003931301 benign Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000081699 SCV000113630 benign not specified 2012-08-14 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000081699 SCV001744057 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000081699 SCV001807198 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000081699 SCV001968276 benign not specified no assertion criteria provided clinical testing

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