ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.3977-30_3977-17del

dbSNP: rs1064795468
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486557 SCV000571303 likely pathogenic not provided 2023-10-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000486557 SCV004408721 likely benign not provided 2023-05-13 criteria provided, single submitter clinical testing

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