ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.4521C>G (p.Pro1507=)

gnomAD frequency: 0.37872  dbSNP: rs8669
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244157 SCV000303003 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000289992 SCV000406584 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 RCV000375888 SCV000483666 benign Deficiency of galactokinase 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001540267 SCV001758133 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730601 SCV001980771 benign Epidermolysis bullosa simplex 1C, localized 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730600 SCV001980772 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000289992 SCV001980773 benign Junctional epidermolysis bullosa with pyloric atresia 2021-08-19 criteria provided, single submitter clinical testing
Invitae RCV001540267 SCV002407291 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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