ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1551G>A (p.Trp517Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001199164 SCV001370160 pathogenic Chondrosarcoma 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PP5,PP4,PP3,PM2,PM4,PVS1.
Clinical Genetics Laboratory,University Hospital Schleswig-Holstein RCV001528142 SCV001739353 pathogenic Multiple congenital exostosis 2021-05-20 no assertion criteria provided clinical testing

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