ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7506G>A (p.Pro2502=)

gnomAD frequency: 0.07727  dbSNP: rs12404427
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Total submissions: 9
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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 RCV000041910 SCV000065606 benign not specified 2008-02-19 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000041910 SCV000114882 benign not specified 2013-04-05 criteria provided, single submitter clinical testing
GeneDx RCV000041910 SCV000169751 benign not specified 2013-01-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV000041910 SCV000317211 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513893 SCV001721594 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001274240 SCV001750320 benign Usher syndrome type 2A 2021-07-01 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888406 SCV004707947 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001513893 SCV005280569 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001274240 SCV001458120 benign Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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