Submissions for variant NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp)

gnomAD frequency: 0.01391  dbSNP: rs140776870

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000596157	SCV000704076	benign	not specified	2016-12-29	criteria provided, single submitter	clinical testing
Invitae	RCV000946599	SCV001092743	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000986608	SCV001135645	likely benign	Retinitis pigmentosa 54	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001141532	SCV001301884	likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000946599	SCV004143996	benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	PCARE: BP4, BS1, BS2