ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3602T>C (p.Ile1201Thr)

gnomAD frequency: 0.00001  dbSNP: rs750443804
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV002473038 SCV000615181 uncertain significance not provided 2023-06-21 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 higher than would generally be expected for pathogenic variants in this gene (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.

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