ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11736G>A (p.Glu3912=)

gnomAD frequency: 0.04404  dbSNP: rs56053654
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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 RCV000041702 SCV000065398 benign not specified 2009-11-24 criteria provided, single submitter clinical testing
GeneDx RCV000041702 SCV000169763 benign not specified 2011-08-12 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 RCV000041702 SCV000317189 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000714156 SCV000844839 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000714156 SCV001725648 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450752 SCV004182077 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001271131 SCV004182078 benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000714156 SCV005287615 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001271131 SCV001451983 benign Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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