ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu)

gnomAD frequency: 0.01895  dbSNP: rs111033381
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Total submissions: 10
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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 RCV000041738 SCV000065434 benign not specified 2010-06-17 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000041738 SCV000231900 benign not specified 2014-07-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000041738 SCV001477198 benign not specified 2020-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000087006 SCV001717473 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000087006 SCV001914907 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450772 SCV004181889 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001826590 SCV004181890 benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000087006 SCV005287603 benign not provided criteria provided, single submitter not provided
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV000087006 SCV000119259 not provided not provided no assertion provided not provided
Natera, Inc. RCV001826590 SCV002088269 likely benign Usher syndrome type 2A 2019-11-27 no assertion criteria provided clinical testing

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