ClinVar Miner

Submissions for variant NM_018319.4(TDP1):c.1317G>T (p.Leu439Phe)

dbSNP: rs138711165
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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 RCV001288513 SCV001475678 uncertain significance not provided 2020-03-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493520 SCV002785369 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 2022-04-28 criteria provided, single submitter clinical testing

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