ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser)

gnomAD frequency: 0.00004  dbSNP: rs376381668
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992933 SCV001145544 uncertain significance not provided 2018-12-27 criteria provided, single submitter clinical testing
Invitae RCV001060744 SCV001225452 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-06-27 criteria provided, single submitter clinical testing

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