Submissions for variant NM_000213.5(ITGB4):c.2009G>A (p.Arg670His)

dbSNP: rs149659118

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000375947	SCV000406546	benign	Junctional epidermolysis bullosa with pyloric atresia	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000966035	SCV001113322	benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000966035	SCV004010566	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	ITGB4: BP4, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000966035	SCV001739846	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000966035	SCV001932674	likely benign	not provided		no assertion criteria provided	clinical testing