Submissions for variant NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)

gnomAD frequency: 0.00066  dbSNP: rs202080221

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mendelics	RCV004700273	SCV001138823	likely benign	Hereditary cancer	2024-09-11	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following: it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease, and/or has normal protein function, and/or has lack of segregation with disease, and/or has been detected in co-occurrence with known pathogenic variant, and/or has lack of disease association in case-control studies, and/or is located in a region inconsistent with a known cause of pathogenicity.
Genetics and Molecular Pathology, SA Pathology	RCV002466413	SCV002761567	likely benign	Primary myelofibrosis	2021-08-27	criteria provided, single submitter	clinical testing	BS1-supp, PP3
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000023398	SCV004101788	likely benign	Thrombocythemia 1	2023-05-10	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001529953	SCV004237254	uncertain significance	not provided	2021-11-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529953	SCV005330283	uncertain significance	not provided	2024-08-01	criteria provided, single submitter	clinical testing
OMIM	RCV000023398	SCV000044689	pathogenic	Thrombocythemia 1	2010-08-12	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529953	SCV001744338	uncertain significance	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001529953	SCV001797661	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001529953	SCV001959983	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529953	SCV001974432	uncertain significance	not provided		no assertion criteria provided	clinical testing
Molecular Oncology - Human Genetics Lab, University of Sao Paulo	RCV001843460	SCV002103135	uncertain significance	Hepatoblastoma		no assertion criteria provided	research