Submissions for variant NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn)

gnomAD frequency: 0.00018  dbSNP: rs375855445

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039709	SCV000063398	uncertain significance	not specified	2015-11-30	criteria provided, single submitter	clinical testing	proposed classification - variant undergoing re-assessment, contact laboratory
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000039709	SCV000604605	uncertain significance	not specified	2016-10-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000734148	SCV000729387	uncertain significance	not provided	2024-10-07	criteria provided, single submitter	clinical testing	Identified in a cohort of individuals with syndromic and nonsyndromic blindness (PMID: 32483926); patient clinical information not provided; In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32483926, 15537665)
Eurofins Ntd Llc (ga)	RCV000734148	SCV000862268	uncertain significance	not provided	2018-07-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000734148	SCV001412179	likely benign	not provided	2024-11-18	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001273395	SCV001456429	uncertain significance	Usher syndrome type 1F	2020-01-07	no assertion criteria provided	clinical testing