ClinVar Miner

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

gnomAD frequency: 0.00294  dbSNP: rs111033459
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham 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) .
Eurofins NTD LLC (GA) RCV000723649 SCV000113668 uncertain significance not provided 2018-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000361686 SCV000476770 uncertain significance Autosomal recessive nonsyndromic hearing loss 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 Laboratory Services,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 RCV000723649 SCV000720812 likely benign not provided 2021-04-09 criteria provided, single submitter clinical testing
Invitae RCV000723649 SCV001029489 benign not provided 2021-12-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000723649 SCV001746073 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000038870 SCV001925936 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000723649 SCV001967917 likely benign not provided no assertion criteria provided clinical testing

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