ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.2911_2938del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005017493 SCV005645597 likely pathogenic Amelogenesis imperfecta type 1A; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 2024-03-21 criteria provided, single submitter clinical testing

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