ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.95A>C (p.Lys32Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV003326722 SCV003927960 pathogenic Congenital muscular dystrophy due to LMNA mutation 2023-04-01 no assertion criteria provided clinical testing

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