ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg)

dbSNP: rs121918515
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517594 SCV000614782 pathogenic not provided 2017-07-20 criteria provided, single submitter clinical testing
OMIM RCV000014153 SCV000034401 pathogenic Spinocerebellar ataxia type 14 2003-12-01 no assertion criteria provided literature only
GeneReviews RCV000014153 SCV000058627 pathologic Spinocerebellar ataxia type 14 2013-04-18 no assertion criteria provided curation Converted during submission to Pathogenic.

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