ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.5053+14C>T

gnomAD frequency: 0.00949  dbSNP: rs78884789
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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 RCV000362066 SCV000406597 uncertain significance Junctional epidermolysis bullosa with pyloric atresia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001556550 SCV001778155 likely benign not provided 2018-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001556550 SCV002381843 benign not provided 2025-01-15 criteria provided, single submitter clinical testing

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