WebHelp Interpretation: Pathogenic/Likely pathogenic Review status: criteria provided, multiple submitters, no conflicts WebApr 9, 2024 · Nemaline myopathy 2. Benign: 3: criteria provided, multiple submitters, no conflicts: Nov 4, 2024 RCV000534249.13: Help. Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants; HI score Help TS score ... (GeneDx Variant Classification (06012015))
VCV000129727.21 - ClinVar - NCBI
WebDec 10, 2024 · Clinical test Help for Congenital myopathy Offered by GeneDx Overview How To Order Indication Methodology Performance Characteristics Interpretation Laboratory Contact Test order code Help: 892 Test name Help Congenital Myopathy & Muscular Dystrophy Panel Purpose of the test Help This is a clinical test intended for Help: … WebGeneDx.com will be down for routine maintenance on Monday April 17, 2024, starting at 6:00 am EDT. Normal operations will return at approximately 7:00 am EDT. Thank you. … the thomas aveling school website
GNE Myopathy - NORD (National Organization for Rare Disorders)
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