ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14173T>C (p.Trp4725Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003985204 SCV004801547 uncertain significance Usher syndrome type 2A 2020-09-30 criteria provided, single submitter clinical testing The USH2A c.14173T>C p.(Trp4725Arg) missense variant has not, to our knowledge, been reported in the peer-reviewed literature. This variant is not observed in version 2.1.1 of the Genome Aggregation Database. Based on the limited evidence, the c.14173T>C p.(Trp4725Arg) variant is classified as a variant of uncertain significance for Usher syndrome type 2.

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