Submissions for variant NM_000878.5(IL2RB):c.235G>A (p.Val79Met)

gnomAD frequency: 0.00319  dbSNP: rs149508414

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000892425	SCV001036297	benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000892425	SCV003916367	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	IL2RB: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000892425	SCV005277239	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000892425	SCV001929545	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000892425	SCV001972931	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003920782	SCV004729757	benign	IL2RB-related disorder	2019-11-26	no assertion criteria provided	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).