ClinVar Miner

Submissions for variant NM_014254.3(RXYLT1):c.1064_1091del (p.Asp355fs) (rs397514545)

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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 RCV001196501 SCV001367109 pathogenic Myopathy 2020-01-27 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,BP4. This variant was detected in heterozygous state.
OMIM RCV000032806 SCV000056574 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 2012-12-07 no assertion criteria provided literature only

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