ClinVar Miner

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

dbSNP: rs149659118
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Total submissions: 6
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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.
Labcorp Genetics (formerly Invitae), Labcorp 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
Breakthrough Genomics, Breakthrough Genomics RCV000966035 SCV005251822 benign not provided criteria provided, single submitter not provided
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

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