Submissions for variant NM_014053.4(FLVCR1):c.1593+9T>C

gnomAD frequency: 0.21623  dbSNP: rs17019870

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000292110	SCV000353974	benign	Posterior column ataxia-retinitis pigmentosa syndrome	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000292110	SCV000744817	benign	Posterior column ataxia-retinitis pigmentosa syndrome	2015-09-21	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000992005	SCV001143951	benign	not provided	2019-07-15	criteria provided, single submitter	clinical testing
Invitae	RCV000992005	SCV001722028	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000292110	SCV001933524	benign	Posterior column ataxia-retinitis pigmentosa syndrome	2021-08-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000292110	SCV000733984	benign	Posterior column ataxia-retinitis pigmentosa syndrome		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700035	SCV001919983	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001700035	SCV001959405	benign	not specified		no assertion criteria provided	clinical testing