ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6936-27T>G

gnomAD frequency: 0.02083  dbSNP: rs2296866
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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 RCV000247913 SCV000312321 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001722328 SCV001947848 benign not provided 2018-08-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233530 SCV003931988 benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233531 SCV003931999 benign Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001722328 SCV005318543 benign not provided criteria provided, single submitter not provided

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