ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.4018G>A (p.Gly1340Arg)

gnomAD frequency: 0.00010  dbSNP: rs140930313
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001974928 SCV002208891 likely benign not provided 2024-06-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484697 SCV002779199 uncertain significance Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa, junctional 5A, intermediate 2024-01-29 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004762265 SCV005374350 uncertain significance Junctional epidermolysis bullosa with pyloric atresia 2024-09-22 criteria provided, single submitter clinical testing

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