ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.*4C>T

gnomAD frequency: 0.00703  dbSNP: rs189610725
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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 RCV000371669 SCV000406609 likely benign Junctional epidermolysis bullosa with pyloric atresia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000379238 SCV000483669 likely benign Deficiency of galactokinase 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001613048 SCV001839534 benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613048 SCV005214105 likely benign not provided criteria provided, single submitter not provided

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