ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3666G>A (p.Ala1222=)

gnomAD frequency: 0.00002  dbSNP: rs764479854
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000932732 SCV001078419 likely benign not provided 2024-10-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000932732 SCV003828082 uncertain significance not provided 2020-03-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275018 SCV001459757 likely benign Usher syndrome type 2A 2020-04-30 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004543495 SCV004792503 likely benign USH2A-related disorder 2024-08-05 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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