Submissions for variant NM_002661.5(PLCG2):c.987G>A (p.Thr329=)

gnomAD frequency: 0.00164  dbSNP: rs200506549

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000528545	SCV000652191	benign	Familial cold autoinflammatory syndrome 3	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001702804	SCV002545818	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	PLCG2: BP4, BP7, BS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001702804	SCV004562810	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004024219	SCV005004682	likely benign	Inborn genetic diseases	2024-01-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Breakthrough Genomics, Breakthrough Genomics	RCV001702804	SCV005250692	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702804	SCV001927974	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001702804	SCV001973700	likely benign	not provided		no assertion criteria provided	clinical testing