ClinVar Miner

Submissions for variant NM_016614.3(TDP2):c.97G>T (p.Ala33Ser)

gnomAD frequency: 0.00001  dbSNP: rs760554150
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332149 SCV001524368 uncertain significance Spinocerebellar ataxia, autosomal recessive 23 2019-09-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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