ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.4620del (p.Thr1542fs)

dbSNP: rs794726676
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005025059 SCV005649825 pathogenic Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa, junctional 5A, intermediate 2024-03-26 criteria provided, single submitter clinical testing
OMIM RCV000015852 SCV000036119 pathogenic Junctional epidermolysis bullosa with pyloric atresia 1998-11-01 no assertion criteria provided literature only

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