ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu) (rs41315587)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041762 SCV000065458 benign not specified 2010-07-26 criteria provided, single submitter clinical testing Gly4838Glu in exon 66 of USH2A: This variant is not expected to have clinical si gnificance because this amino acid position in not conserved (chimp has a Glu at this amino acid position) and is listed in dbSNP (rs41315587 - no frequency dat a). In addition, this variant has been identified in 4/191 (2.1%) of individuals tested by our laboratory with at least 3/4 of Black or Hispanic background sugg esting this variant is a common benign variant in these populations.
GeneDx RCV000041762 SCV000169771 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000041762 SCV000231956 benign not specified 2014-05-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714161 SCV000844844 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283068 SCV000884847 benign none provided 2020-01-16 criteria provided, single submitter clinical testing
Invitae RCV000714161 SCV001716454 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276148 SCV001462002 benign Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing

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