ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys)

dbSNP: rs1599943097
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000991047 SCV001142152 likely pathogenic Spinocerebellar ataxia type 14 2019-05-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480895 SCV004225294 likely pathogenic not provided 2023-01-05 criteria provided, single submitter clinical testing PP3, PM1, PM2, PM5

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