ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys)

gnomAD frequency: 0.00014  dbSNP: rs200792578
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665011 SCV000789064 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-01-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000924302 SCV001069813 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073347 SCV001238887 uncertain significance Retinal dystrophy 2018-12-13 criteria provided, single submitter clinical testing
GeneDx RCV000924302 SCV001840912 likely benign not provided 2020-11-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31054281, 30703234, 24938718)
Dept Of Ophthalmology, Nagoya University RCV001073347 SCV004707256 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001835069 SCV002088290 likely benign Usher syndrome type 2A 2020-08-10 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004533463 SCV004741510 likely benign USH2A-related disorder 2022-12-23 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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