ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.532C>T (p.Gln178Ter)

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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 RCV005017578 SCV005645457 likely pathogenic Amelogenesis imperfecta type 1A; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 2024-01-19 criteria provided, single submitter clinical testing

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