ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) (rs35336155)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155398 SCV000205085 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Glu316Gln in Exon 12 of USH1C: This variant is not expected to have clinical sig nificance because it has been identified in 0.5% (20/3702) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs35336155).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155398 SCV000225629 benign not specified 2015-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000155398 SCV000523722 likely benign not specified 2017-10-09 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.
Invitae RCV000889692 SCV001033393 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001106340 SCV001263398 uncertain significance Usher syndrome, type 1C 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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