ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro)

gnomAD frequency: 0.61836  dbSNP: rs871443
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247515 SCV000303004 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000294224 SCV000406607 benign Junctional epidermolysis bullosa with pyloric atresia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000322321 SCV000483668 benign Deficiency of galactokinase 2016-06-14 criteria provided, single submitter clinical testing
Mendelics RCV000294224 SCV001140833 benign Junctional epidermolysis bullosa with pyloric atresia 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001610568 SCV001834235 benign not provided 2019-10-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730603 SCV001980777 benign Epidermolysis bullosa simplex 1C, localized 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730602 SCV001980778 benign Junctional epidermolysis bullosa, non-Herlitz type 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000294224 SCV001980780 benign Junctional epidermolysis bullosa with pyloric atresia 2021-08-19 criteria provided, single submitter clinical testing
Invitae RCV001610568 SCV002401785 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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