ClinVar Miner

Submissions for variant NM_173477.5(USH1G):c.480C>T (p.Arg160=)

gnomAD frequency: 0.00010  dbSNP: rs138590256
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001319999 SCV001510769 likely benign not provided 2024-10-25 criteria provided, single submitter clinical testing
GeneDx RCV001319999 SCV005396460 uncertain significance not provided 2024-05-07 criteria provided, single submitter clinical testing In silico analysis indicates that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004531109 SCV004735058 likely benign USH1G-related disorder 2023-08-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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