Submissions for variant NM_025074.7(FRAS1):c.9116-5C>G

gnomAD frequency: 0.50468  dbSNP: rs7695038

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250938	SCV000314503	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000263121	SCV000451284	benign	Fraser syndrome 1	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.
GeneDx	RCV001668588	SCV001886166	benign	not provided	2019-02-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000263121	SCV001933611	benign	Fraser syndrome 1	2021-08-10	criteria provided, single submitter	clinical testing
Invitae	RCV001668588	SCV002437964	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000263121	SCV000734359	benign	Fraser syndrome 1		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000250938	SCV001926758	benign	not specified		no assertion criteria provided	clinical testing