ClinVar Miner

Submissions for variant NM_001368882.1(COL13A1):c.1559G>A (p.Gly520Asp)

dbSNP: rs2065959942
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001261648 SCV001438947 pathogenic Congenital myasthenic syndrome 19 criteria provided, single submitter clinical testing

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