ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu)

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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 RCV001196595 SCV001367203 pathogenic Usher syndrome, type 2A 2020-01-19 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3. This variant was detected in homozygous state.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268167 SCV001446881 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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