ClinVar Miner

Submissions for variant NM_173477.5(USH1G):c.1340G>A (p.Arg447Gln)

gnomAD frequency: 0.00058  dbSNP: rs201359669
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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) RCV000729919 SCV000857620 uncertain significance not provided 2017-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000729919 SCV001384306 likely benign not provided 2025-01-14 criteria provided, single submitter clinical testing
GeneDx RCV000729919 SCV001822445 likely benign not provided 2020-03-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535829 SCV004722644 likely benign USH1G-related disorder 2023-08-04 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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