ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.*4A>G

dbSNP: rs530405236
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152561 SCV000337205 likely benign not specified 2015-11-12 criteria provided, single submitter clinical testing
GeneDx RCV001689699 SCV001913758 benign not provided 2018-11-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445573 SCV004173889 benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445572 SCV004173890 benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689699 SCV005261725 likely benign not provided criteria provided, single submitter not provided
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152561 SCV000201796 not provided not specified 2013-08-15 no assertion provided clinical testing

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