ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.392G>A (p.Cys131Tyr)

dbSNP: rs386134167
Minimum review status: Collection method:
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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 Inc RCV000992817 SCV001145376 uncertain significance not provided 2020-11-17 criteria provided, single submitter clinical testing
GeneReviews RCV000034994 SCV000058630 not provided Spinocerebellar ataxia type 14 no assertion provided literature only

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