ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.1365T>C (p.Ser455=) (rs111033459)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038870 SCV000062548 benign not specified 2014-10-04 criteria provided, single submitter clinical testing p.Ser455Ser in exon 6 of DFNB31: This variant is not likely to have clinical sig nificance because it does not alter an amino acid residue and is not located nea r a splice junction. In addition, it has been identified in 0.5% (41/8600) of Eu ropean American chromosomes and 0.15% (7/4406) of African American chromosomes b y the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; dbSNP rs111033459) .
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723649 SCV000113668 uncertain significance not provided 2018-01-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361686 SCV000476770 uncertain significance Deafness, autosomal recessive 31 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000259971 SCV000476771 uncertain significance Usher syndrome, type 2D 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000038870 SCV000720812 likely benign not specified 2017-08-04 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 RCV000723649 SCV001029489 benign not provided 2020-12-04 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.