Submissions for variant NM_002739.5(PRKCG):c.285C>T (p.Asp95=)

gnomAD frequency: 0.03329  dbSNP: rs17854523

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000576531	SCV000414580	likely benign	Spinocerebellar ataxia type 14	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514790	SCV000609633	benign	not provided	2017-05-10	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV001643027	SCV000677445	benign	not specified	2021-04-16	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000576531	SCV000743605	benign	Spinocerebellar ataxia type 14	2016-04-05	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000576531	SCV000744919	benign	Spinocerebellar ataxia type 14	2015-09-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000514790	SCV001843218	benign	not provided	2021-05-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000514790	SCV005205965	likely benign	not provided		criteria provided, single submitter	not provided