ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.3474+21T>C

gnomAD frequency: 0.50671  dbSNP: rs820388
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001652847 SCV001866063 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730913 SCV001980767 benign Epidermolysis bullosa simplex 1C, localized 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730912 SCV001980769 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730914 SCV001980770 benign Junctional epidermolysis bullosa with pyloric atresia 2021-08-19 criteria provided, single submitter clinical testing

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