ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=)

gnomAD frequency: 0.00149  dbSNP: rs41307518
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039720 SCV000063409 benign not specified 2010-10-26 criteria provided, single submitter clinical testing Val1006Val in exon 23 of PCDH15: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located near a splice junction and is presnet in dbSNP (rs41307518 - 5 submissions).
Eurofins Ntd Llc (ga) RCV000039720 SCV000203208 benign not specified 2017-03-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000327217 SCV000363169 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000840674 SCV000982603 benign not provided 2019-10-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16679490)
Labcorp Genetics (formerly Invitae), Labcorp RCV000840674 SCV001034973 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001449927 SCV001653336 likely benign Usher syndrome type 1F 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001449927 SCV002093046 benign Usher syndrome type 1F 2019-10-21 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.