Submissions for variant NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu)

gnomAD frequency: 0.00224  dbSNP: rs114137983

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039759	SCV000063448	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Pro1805Leu in Exon 33 of PCDH15: This variant is not expected to have clinical s ignificance because it has been identified in 0.6% (23/3736) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs114137983).
Eurofins Ntd Llc (ga)	RCV000039759	SCV000203201	likely benign	not specified	2015-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000971054	SCV000729391	likely benign	not provided	2021-07-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000971054	SCV001118670	likely benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001105923	SCV001262938	uncertain significance	Usher syndrome type 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000971054	SCV003799630	likely benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000971054	SCV004125387	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	PCDH15: BP4
Natera, Inc.	RCV001831689	SCV002079571	likely benign	Usher syndrome type 1F	2019-12-12	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534846	SCV004731416	likely benign	PCDH15-related disorder	2020-12-21	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).