Submissions for variant NM_015192.4(PLCB1):c.102C>T (p.Asp34=)

gnomAD frequency: 0.18027  dbSNP: rs16994453

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000117919	SCV000312440	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000268910	SCV000435357	likely benign	Early Infantile Epileptic Encephalopathy, Autosomal Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312211	SCV000846097	benign	Inborn genetic diseases	2016-01-08	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Invitae	RCV001514554	SCV001722426	benign	Developmental and epileptic encephalopathy, 12	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001598624	SCV001827258	benign	not provided	2020-11-20	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117919	SCV000152195	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.