ClinVar Miner

Submissions for variant NM_000210.4(ITGA6):c.3167del (p.Lys1056fs)

dbSNP: rs1559159868
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761293 SCV000891267 pathogenic Junctional epidermolysis bullosa with pyloric atresia 2018-09-14 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004760765 SCV005374189 uncertain significance Epidermolysis bullosa, junctional 6, with pyloric atresia 2024-09-22 criteria provided, single submitter clinical testing

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