ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.1304A>C (p.Asp435Ala) (rs4935502)

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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, Partners HealthCare Personalized Medicine RCV000039699 SCV000063388 benign not specified 2009-06-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039699 SCV000315056 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287532 SCV000363214 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333000 SCV000363215 benign Usher syndrome type 1 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039699 SCV000709463 benign not specified 2017-06-21 criteria provided, single submitter clinical testing
Mendelics RCV000988363 SCV001138051 benign Usher syndrome type 1F 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000039699 SCV001158872 benign not specified 2018-07-25 criteria provided, single submitter clinical testing

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