ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7100G>A (p.Gly2367Glu)

dbSNP: rs1017425051
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001786960 SCV002028970 uncertain significance not provided 2021-05-19 criteria provided, single submitter clinical testing Observed in a patient with retinitis pigmentosa in published literature; however, additional information is not available (Ng TK et al., 2019); Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30948794)
Fulgent Genetics, Fulgent Genetics RCV002478020 SCV002780944 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2022-05-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451935 SCV004181560 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451934 SCV004181561 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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