ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6655-24G>A

gnomAD frequency: 0.44367  dbSNP: rs11243704
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250557 SCV000312319 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001636798 SCV001852305 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233528 SCV003932064 benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233529 SCV003932065 benign Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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