ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11230A>G (p.Arg3744Gly)

gnomAD frequency: 0.00006  dbSNP: rs1426369789
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731521 SCV000859350 uncertain significance not provided 2018-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000731521 SCV004169857 uncertain significance not provided 2023-05-04 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 RCV003453530 SCV004182124 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453529 SCV004182126 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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