ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14481C>T (p.Ala4827=) (rs41304083)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041761 SCV000065457 benign not specified 2010-07-26 criteria provided, single submitter clinical testing Ala4827Ala in exon 66 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and it is not located near a splice junction. In addition, this variant has been identified in 4/191 (2.1%) of individual?s tested by our laboratory with at least 3/4 of Black or Hi spanic background. Therefore, this variant is likley to be a common benign varia nt in these populations.
GeneDx RCV000041761 SCV000169770 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 RCV000041761 SCV000231955 benign not specified 2014-05-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000714160 SCV000844843 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
Invitae RCV000714160 SCV001716455 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276149 SCV001462003 benign Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing

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