Submissions for variant NM_015192.4(PLCB1):c.639A>C (p.Arg213Ser)

gnomAD frequency: 0.00014  dbSNP: rs140899287

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001079973	SCV000561037	benign	Developmental and epileptic encephalopathy, 12	2024-01-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313226	SCV000847472	likely benign	Inborn genetic diseases	2018-04-19	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.
GeneDx	RCV000828396	SCV000970082	likely benign	not provided	2023-11-03	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences	RCV003972791	SCV004789021	benign	PLCB1-related condition	2023-10-18	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).