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

dbSNP: rs397517462

Total submissions: 11

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	RCV004577721	SCV000363126	uncertain significance	Hearing loss, autosomal 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