ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13191G>A (p.Glu4397=)

gnomAD frequency: 0.15011  dbSNP: rs2009923
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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 RCV000041736 SCV000065432 benign not specified 2008-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000041736 SCV000169769 benign not specified 2011-07-05 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.
Eurofins Ntd Llc (ga) RCV000041736 SCV000231899 benign not specified 2014-07-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000041736 SCV000317193 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514232 SCV001722029 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001276155 SCV001748490 benign Usher syndrome type 2A 2021-07-01 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003887891 SCV004707248 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001514232 SCV005287604 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001276155 SCV001462009 benign Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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