ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)

dbSNP: rs754834155
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199585 SCV001162756 pathogenic Usher syndrome type 2 2020-01-09 criteria provided, single submitter research
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376437 SCV001573575 likely pathogenic Retinitis pigmentosa 39 2021-04-08 criteria provided, single submitter research The USH2A c.14761G>T 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: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.
Genome-Nilou Lab RCV001376437 SCV004182967 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455052 SCV004182979 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV001376437 SCV005055758 pathogenic Retinitis pigmentosa 39 2023-12-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005012436 SCV005642781 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-02-15 criteria provided, single submitter clinical testing

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