ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5804A>G (p.Asn1935Ser)

gnomAD frequency: 0.00001  dbSNP: rs762791927
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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 RCV000518592 SCV000615201 uncertain significance not specified 2016-09-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002525079 SCV003463192 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-08-05 criteria provided, single submitter clinical testing

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