ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.1515G>A (p.Ala505=)

gnomAD frequency: 0.03118  dbSNP: rs34252199
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Total submissions: 7
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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 RCV000038873 SCV000062551 benign not specified 2009-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000038873 SCV000168107 benign not specified 2013-02-25 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.
PreventionGenetics, part of Exact Sciences RCV000038873 SCV000312548 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000309979 SCV000476766 likely benign 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 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 RCV000339210 SCV000476767 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc RCV000991889 SCV001143726 benign not provided 2019-02-12 criteria provided, single submitter clinical testing
Invitae RCV000991889 SCV001719765 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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