ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4252-15dup

dbSNP: rs770949401
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001514179 SCV001721960 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001514179 SCV001983904 likely benign not provided 2021-04-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446680 SCV004172145 benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001279665 SCV004172146 benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279665 SCV001466779 benign Usher syndrome type 2A 2020-07-19 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004538556 SCV004748976 benign USH2A-related disorder 2019-08-02 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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