ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.732T>C (p.Gly244=)

dbSNP: rs576466805
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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 RCV000942069 SCV001087982 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277088 SCV001463886 likely benign Usher syndrome type 2A 2020-01-10 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004543524 SCV004780724 likely benign USH2A-related disorder 2019-09-23 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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