Submissions for variant NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=)

gnomAD frequency: 0.00417  dbSNP: rs199689791

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000152888	SCV000202312	benign	not specified	2016-08-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000959821	SCV001106754	benign	not provided	2025-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001283040	SCV001157478	benign	Retinitis pigmentosa 54	2023-09-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001141299	SCV001301636	benign	Retinitis pigmentosa	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV000959821	SCV004143992	likely benign	not provided	2024-12-01	criteria provided, single submitter	clinical testing	PCARE: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000959821	SCV005245064	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000152888	SCV001917446	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000152888	SCV001974192	benign	not specified		no assertion criteria provided	clinical testing