ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.2046G>C (p.Arg682=)

gnomAD frequency: 0.00555  dbSNP: rs35258467
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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,Mass General Brigham Personalized Medicine RCV000038883 SCV000062561 benign not specified 2011-12-21 criteria provided, single submitter clinical testing The Arg682Arg variant is not expected to have clinical significance because it d oes not alter an amino acid residue, is not located within the splice consensus sequence, has been identified in 0.9% (42/4502) of chromosomes from a broad, tho ugh clinically unspecified population (dbSNP rs35258467).
Illumina Laboratory Services,Illumina RCV000348525 SCV000476744 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services,Illumina RCV000393736 SCV000476745 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.
GeneDx RCV000839194 SCV000981080 benign not provided 2019-04-25 criteria provided, single submitter clinical testing
Invitae RCV000839194 SCV001042303 benign not provided 2020-11-17 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000839194 SCV001143729 benign not provided 2018-11-12 criteria provided, single submitter clinical testing

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