ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13577G>A (p.Arg4526Gln)

gnomAD frequency: 0.00001  dbSNP: rs527644737
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073936 SCV001239501 uncertain significance Retinal dystrophy 2018-07-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001244827 SCV001418072 likely benign not provided 2024-11-18 criteria provided, single submitter clinical testing
GeneDx RCV001244827 SCV003805706 uncertain significance not provided 2022-08-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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