ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.3793+2dup

dbSNP: rs886041205
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000401703 SCV000329366 pathogenic not provided 2020-02-28 criteria provided, single submitter clinical testing Intronic splice site variant in a gene for which loss-of-function is a known mechanism of disease, other nearby splicing variants have been reported (c.3793+1G>A, c.3793+1G>C), and splice predictors support a deleterious effect (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 7545057)
OMIM RCV002280814 SCV000036117 pathogenic Junctional epidermolysis bullosa with pyloric atresia 1995-06-01 no assertion criteria provided literature only

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