ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1645T>A (p.Cys549Ser)

dbSNP: rs1064797139
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487762 SCV000574828 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000487762 SCV001780650 uncertain significance not provided 2024-04-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003449255 SCV004182512 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449254 SCV004182513 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816702 SCV005072481 likely pathogenic Retinal dystrophy 2020-01-01 no assertion criteria provided clinical testing

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