ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7100+27A>G

gnomAD frequency: 0.16912  dbSNP: rs2296865
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252677 SCV000312322 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001660326 SCV001873827 benign not provided 2018-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233532 SCV003931966 benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233533 SCV003931977 benign Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001660326 SCV005318532 benign not provided criteria provided, single submitter not provided

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