Submissions for variant NM_025074.7(FRAS1):c.6468C>T (p.His2156=)

gnomAD frequency: 0.67410  dbSNP: rs753752

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178609	SCV000230724	benign	not specified	2015-10-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000178609	SCV000314494	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000309112	SCV000451230	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	RCV000309112	SCV001933602	benign	Fraser syndrome 1	2021-08-10	criteria provided, single submitter	clinical testing
Invitae	RCV002054119	SCV002469187	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000309112	SCV000734352	benign	Fraser syndrome 1		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000178609	SCV001927273	benign	not specified		no assertion criteria provided	clinical testing