Submissions for variant NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=)

gnomAD frequency: 0.00371  dbSNP: rs200278694

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000306261	SCV000335133	likely benign	not specified	2015-09-22	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625232	SCV000744245	benign	Retinitis pigmentosa 54	2017-06-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000957826	SCV001104644	benign	not provided	2025-01-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001136593	SCV001296447	likely benign	Retinitis pigmentosa	2017-07-24	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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000957826	SCV002063846	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	PCARE: BP4, BP7, BS2
Fulgent Genetics, Fulgent Genetics	RCV000625232	SCV002807040	likely benign	Retinitis pigmentosa 54	2022-04-25	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000957826	SCV005263275	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000957826	SCV001923510	likely benign	not provided		no assertion criteria provided	clinical testing