Submissions for variant NM_001384140.1(PCDH15):c.4671+1438A>C

gnomAD frequency: 0.00449  dbSNP: rs16937768

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000614177	SCV000711265	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Glu1649Asp in Exon 36 of PCDH15: This variant is not expected to have clinical s ignificance because it has been identified in 1.5% (35/2374) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs16937768).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000965805	SCV001113082	benign	not provided	2021-04-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000965805	SCV001778047	likely benign	not provided	2018-09-28	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000614177	SCV001924042	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000614177	SCV001970629	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530735	SCV004751122	benign	PCDH15-related disorder	2019-07-12	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).