Submissions for variant NM_002661.5(PLCG2):c.1444T>C (p.Tyr482His)

gnomAD frequency: 0.00341  dbSNP: rs187956469

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573290	SCV000604847	benign	not provided	2023-09-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000548599	SCV000652167	benign	Familial cold autoinflammatory syndrome 3	2024-01-29	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001573290	SCV002010411	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573290	SCV002545820	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	PLCG2: BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573290	SCV001798933	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573290	SCV001932456	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573290	SCV001967696	likely benign	not provided		no assertion criteria provided	clinical testing