ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1522G>A (p.Ala508Thr)

dbSNP: rs397517999
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041781 SCV000065477 uncertain significance not specified 2013-07-11 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Eurofins Ntd Llc (ga) RCV000726707 SCV000702282 uncertain significance not provided 2016-11-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450817 SCV004182862 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450816 SCV004182863 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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