Submissions for variant NM_025074.7(FRAS1):c.5366+13T>G

gnomAD frequency: 0.31001  dbSNP: rs2170899

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178008	SCV000229977	benign	not specified	2015-03-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000178008	SCV000314491	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000370507	SCV000451217	benign	Fraser syndrome 1	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.
Genome-Nilou Lab	RCV000370507	SCV001933601	benign	Fraser syndrome 1	2021-08-10	criteria provided, single submitter	clinical testing
Invitae	RCV002054104	SCV002469178	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000370507	SCV000734351	benign	Fraser syndrome 1		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000178008	SCV001928453	benign	not specified		no assertion criteria provided	clinical testing