Submissions for variant NM_017791.3(FLVCR2):c.543G>A (p.Val181=)

dbSNP: rs2287016

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081865	SCV000113800	benign	not specified	2013-07-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000373082	SCV000388815	benign	Posterior column ataxia-retinitis pigmentosa syndrome	2018-01-12	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.
Genome-Nilou Lab	RCV001701742	SCV001933527	benign	Fowler syndrome	2021-08-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001711250	SCV001942664	benign	not provided	2019-10-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001711250	SCV003339256	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001711250	SCV005294549	benign	not provided		criteria provided, single submitter	not provided