ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.2521G>A (p.Ala841Thr)

gnomAD frequency: 0.00010  dbSNP: rs199531912
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003234385 SCV003930673 uncertain significance not provided 2022-12-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV003234385 SCV004517020 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005029949 SCV005650258 likely benign Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa, junctional 5A, intermediate 2024-05-16 criteria provided, single submitter clinical testing

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