ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del)

dbSNP: rs397517462
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
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 RCV000039747 SCV000063436 likely benign not specified 2013-02-07 criteria provided, single submitter clinical testing p.Pro1752del in exon 33 of PCDH15: This variant is not expected to have clinical significance because it has been seen in 0.6% (5/878) of control chromosomes (S tabej 2012) and results in an in-frame deletion of a Pro residue in a non-conser ved proline tract.
Eurofins Ntd Llc (ga) RCV000415971 SCV000114271 uncertain significance not provided 2013-08-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000322408 SCV000363126 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000360567 SCV000363127 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000415971 SCV000493571 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing PCDH15: BS2
GeneDx RCV000415971 SCV000570036 likely benign not provided 2023-09-25 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Invitae RCV000415971 SCV001047495 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004534844 SCV004726359 likely benign PCDH15-related disorder 2020-09-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000415971 SCV001921678 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000415971 SCV001967962 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001826582 SCV002091023 benign Usher syndrome type 1F 2019-09-25 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.