ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.3793+1G>C

dbSNP: rs147222357
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780424 SCV002023186 pathogenic not provided 2021-05-11 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001844362 SCV001870485 pathogenic Junctional epidermolysis bullosa with pyloric atresia 2021-04-29 no assertion criteria provided research

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