ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys)

gnomAD frequency: 0.19185  dbSNP: rs2274158
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Total submissions: 8
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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 RCV000038892 SCV000062570 benign not specified 2009-06-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000038892 SCV000312552 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000334982 SCV000476724 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV001095334 SCV000476725 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.
Mendelics RCV000391015 SCV001137888 benign Retinitis pigmentosa-deafness syndrome 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001514504 SCV001722367 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001514504 SCV001870017 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000334982 SCV001876654 benign Autosomal recessive nonsyndromic hearing loss 31 2021-07-30 criteria provided, single submitter clinical testing

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