ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.*25C>T

gnomAD frequency: 0.71419  dbSNP: rs9367
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000279492 SCV000406610 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.
Illumina Laboratory Services, Illumina RCV000287232 SCV000483670 benign Deficiency of galactokinase 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001618569 SCV001846254 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730671 SCV001980781 benign Epidermolysis bullosa simplex 1C, localized 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730670 SCV001980782 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000279492 SCV001980783 benign Junctional epidermolysis bullosa with pyloric atresia 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618569 SCV005251846 benign not provided criteria provided, single submitter not provided

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