ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.786G>T (p.Arg262Ser)

gnomAD frequency: 0.00004  dbSNP: rs368545314
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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 RCV001331554 SCV001523615 uncertain significance Spinocerebellar ataxia type 40 2020-07-29 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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