ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13599_13612del (p.Gly4534fs)

dbSNP: rs1657920193
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196251 SCV001366806 likely pathogenic Usher syndrome type 2A 2019-08-19 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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