Submissions for variant NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser)

gnomAD frequency: 0.00365  dbSNP: rs187333111

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175651	SCV000227180	benign	not specified	2014-12-18	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514195	SCV000610230	likely benign	not provided	2017-05-30	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625231	SCV000744244	likely benign	Retinitis pigmentosa 54	2015-08-26	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000625231	SCV000885131	likely benign	Retinitis pigmentosa 54	2019-08-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001141301	SCV001301638	likely benign	Retinitis pigmentosa	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000514195	SCV001727503	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888625	SCV004705287	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000514195	SCV001798525	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000175651	SCV001920990	benign	not specified		no assertion criteria provided	clinical testing