Submissions for variant NM_025074.7(FRAS1):c.9116-11T>C

gnomAD frequency: 0.51261  dbSNP: rs7677541

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246248	SCV000314502	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000374156	SCV000451283	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.
GeneDx	RCV001668587	SCV001886187	benign	not provided	2019-02-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000374156	SCV001933610	benign	Fraser syndrome 1	2021-08-10	criteria provided, single submitter	clinical testing
Invitae	RCV001668587	SCV002467885	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000374156	SCV000734358	benign	Fraser syndrome 1		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000246248	SCV001928761	benign	not specified		no assertion criteria provided	clinical testing