ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.5219-15A>G

dbSNP: rs142184100
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000276703 SCV000406604 uncertain significance Junctional epidermolysis bullosa with pyloric atresia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056629 SCV002484419 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002056629 SCV004144267 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing ITGB4: BS2

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