ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.390C>T (p.Asn130=)

gnomAD frequency: 0.00014  dbSNP: rs138363625
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001561 SCV001158947 likely benign not specified 2019-05-02 criteria provided, single submitter clinical testing
Invitae RCV003117681 SCV003789172 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-07-23 criteria provided, single submitter clinical testing

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