ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196594 SCV001367202 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 RCV001268166 SCV001446880 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376445 SCV001573586 likely pathogenic Retinitis pigmentosa 39 2021-04-08 criteria provided, single submitter research The USH2A c.13342_13347del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PP3, PM3-S, PM4. Based on this evidence we have classified this variant as Likely Pathogenic.

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