Submissions for variant NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr)

gnomAD frequency: 0.00556  dbSNP: rs149601594

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173192	SCV000224285	benign	not specified	2014-10-08	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224337	SCV000281232	uncertain significance	not provided	2016-04-18	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000224337	SCV001030708	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001283146	SCV001157210	benign	Retinitis pigmentosa 54	2020-04-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001138933	SCV001299028	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV000224337	SCV004143994	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	PCARE: BP4, BS2