ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7005G>C (p.Lys2335Asn)

gnomAD frequency: 0.00001  dbSNP: rs141657462
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001298228 SCV001487275 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-09-13 criteria provided, single submitter clinical testing
Athena Diagnostics RCV003482359 SCV004230046 uncertain significance not provided 2022-12-06 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.

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