Submissions for variant NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del)

dbSNP: rs373916538

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001069767	SCV000570696	likely benign	not provided	2020-11-23	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000487227	SCV000731542	likely benign	not specified	2017-04-25	criteria provided, single submitter	clinical testing	p.Pro1760_Pro1762del in exon 33 of PCDH15: This variant is not expected to have clinical significance because it has been identified in 0.4% (77/20736) of Afric an chromosomes by the Genome Aggregation Database (gnomAD, http://exac.broadinst itute.org; dbSNP rs373916538).
Counsyl	RCV000673254	SCV000798436	likely benign	Usher syndrome type 1F	2018-03-05	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000487227	SCV000857618	likely benign	not specified	2017-11-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001069767	SCV001234959	likely benign	not provided	2025-01-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001069767	SCV004125388	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	PCDH15: BS1
Clinical Genetics, Academic Medical Center	RCV001069767	SCV001922231	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001069767	SCV001969569	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541525	SCV004782388	likely benign	PCDH15-related disorder	2023-08-10	no assertion criteria provided	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).