ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.1201_1202del (p.Cys401fs)

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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 RCV005017550 SCV005645396 likely pathogenic Amelogenesis imperfecta type 1A; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 2024-05-07 criteria provided, single submitter clinical testing

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