ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.5054-15A>G

gnomAD frequency: 0.15459  dbSNP: rs8078247
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000265090 SCV000406598 benign Junctional epidermolysis bullosa with pyloric atresia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000283824 SCV000483667 benign Deficiency of galactokinase 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001711937 SCV001946504 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Invitae RCV001711937 SCV002486372 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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