Submissions for variant NM_006254.4(PRKCD):c.1119G>A (p.Glu373=)

gnomAD frequency: 0.29106  dbSNP: rs2230494

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455584	SCV000540115	benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp	RCV001515314	SCV001723365	benign	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001692120	SCV001908132	benign	not provided	2021-05-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001515314	SCV002031851	benign	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	2021-10-25	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000455584	SCV004102193	benign	not specified	2023-11-12	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 47% of patients studied by a panel of primary immunodeficiencies. Number of patients: 45. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001692120	SCV005299577	benign	not provided		criteria provided, single submitter	not provided