ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14333C>A (p.Ala4778Asp) (rs113447586)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041759 SCV000065455 benign not specified 2011-12-16 criteria provided, single submitter clinical testing Ala4778Asp in exon 65 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 2.7% (100/3738) of chromosomes from a broad African American population (dbSNP rs146994147).
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755429 SCV000605553 benign not provided 2017-05-26 criteria provided, single submitter clinical testing
Invitae RCV000755429 SCV001027318 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000041759 SCV000730481 likely benign not specified 2018-02-09 no assertion criteria provided 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.

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