ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.5054-25C>G

gnomAD frequency: 0.66427  dbSNP: rs2249613
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001641122 SCV001857729 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730892 SCV001980774 benign Epidermolysis bullosa simplex 1C, localized 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730891 SCV001980775 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730893 SCV001980776 benign Junctional epidermolysis bullosa with pyloric atresia 2021-08-19 criteria provided, single submitter clinical testing

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