Submissions for variant NM_015192.4(PLCB1):c.2967G>A (p.Thr989=)

gnomAD frequency: 0.00730  dbSNP: rs45464693

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117929	SCV000152205	benign	not specified	2017-11-21	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000117929	SCV000228464	benign	not specified	2016-04-12	criteria provided, single submitter	clinical testing
Invitae	RCV001083347	SCV000290123	benign	Developmental and epileptic encephalopathy, 12	2024-01-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000117929	SCV000312448	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000282080	SCV000435392	uncertain significance	Early Infantile Epileptic Encephalopathy, Autosomal Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000712702	SCV000843222	benign	not provided	2017-09-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313913	SCV000847377	likely benign	Inborn genetic diseases	2016-04-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen	RCV000712702	SCV001335101	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	PLCB1: BP4, BP7, BS1, BS2
GeneDx	RCV000712702	SCV001910325	benign	not provided	2020-12-14	criteria provided, single submitter	clinical testing