ClinVar Miner

Submissions for variant NM_017872.5(THG1L):c.695T>C (p.Leu232Pro)

gnomAD frequency: 0.67301  dbSNP: rs2270812
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001618747 SCV001843043 benign not provided 2018-10-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838709 SCV002098926 benign Spinocerebellar ataxia, autosomal recessive 28 2021-09-10 criteria provided, single submitter clinical testing

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