ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.546A>G (p.Gly182=) (rs34164469)

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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 RCV000039760 SCV000063449 benign not specified 2010-07-25 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it does not a lter an amino acid residue, is not located near a splice junction and is listed in dbSNP(rs34164469 - 2 submissions). In addition, this variant has been identif ied by our laboratory in an individual who has a homozygous pathogenic variant i n another gene that the causes hearing loss.
GeneDx RCV000039760 SCV000170884 benign not specified 2013-02-11 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,PreventionGenetics RCV000039760 SCV000315071 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398758 SCV000363242 likely benign Usher syndrome type 1 2018-01-12 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 Clinical Services Laboratory,Illumina RCV000309128 SCV000363243 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992511 SCV001144883 benign not provided 2018-08-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000039760 SCV001361471 benign not specified 2019-08-08 criteria provided, single submitter clinical testing

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