Submissions for variant NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del)

dbSNP: rs557936064

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153650	SCV000203202	benign	not specified	2014-04-03	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000153650	SCV000269627	benign	not specified	2015-06-11	criteria provided, single submitter	clinical testing	p.Leu1765_Pro1767del in exon 33 of PCDH15: This variant is not expected to have clinical significance because it has been identified in 0.4% (96/24474) of Europ ean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000888344	SCV001031974	likely benign	not provided	2025-01-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000888344	SCV001813428	likely benign	not provided	2021-03-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25307757)
Fulgent Genetics, Fulgent Genetics	RCV002505164	SCV002802958	likely benign	Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F	2022-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000888344	SCV004698407	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	PCDH15: BP3
PreventionGenetics, part of Exact Sciences	RCV004544401	SCV004769917	likely benign	PCDH15-related disorder	2021-01-08	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).