ClinVar Miner

Submissions for variant NM_198129.4(LAMA3):c.7289del (p.Gly2430fs)

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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 RCV005022850 SCV005652382 likely pathogenic Laryngo-onycho-cutaneous syndrome; Epidermolysis bullosa, junctional 2A, intermediate; Epidermolysis bullosa, junctional 2B, severe 2024-05-31 criteria provided, single submitter clinical testing

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