ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.5297C>T (p.Thr1766Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003333307 SCV004040710 uncertain significance Junctional epidermolysis bullosa with pyloric atresia 2023-02-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333308 SCV004040867 uncertain significance Epidermolysis bullosa, junctional 5A, intermediate 2023-02-01 criteria provided, single submitter clinical testing

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