ClinVar Miner

Submissions for variant NM_002739.5(PRKCG):c.323A>G (p.Tyr108Cys)

dbSNP: rs2122988484
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542611 SCV001760454 likely pathogenic Spinocerebellar ataxia type 14 no assertion criteria provided clinical testing
Solve-RD Consortium RCV001542611 SCV005091268 likely pathogenic Spinocerebellar ataxia type 14 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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