Submissions for variant NM_015192.4(PLCB1):c.2082G>A (p.Gly694=)

gnomAD frequency: 0.05661  dbSNP: rs3761170

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000117923	SCV000312445	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000370267	SCV000435379	likely benign	Early Infantile Epileptic Encephalopathy, Autosomal Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312213	SCV000846339	benign	Inborn genetic diseases	2016-03-13	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001517148	SCV001725585	benign	Developmental and epileptic encephalopathy, 12	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001719869	SCV001949364	benign	not provided	2020-11-24	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001719869	SCV005207311	likely benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000117923	SCV000152199	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.