Submissions for variant NM_024513.4(FYCO1):c.289-14T>A

gnomAD frequency: 0.34838  dbSNP: rs751552

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249497	SCV000314328	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000294396	SCV000444712	benign	Cataract 18	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	RCV001668585	SCV001887972	benign	not provided	2018-07-21	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000294396	SCV001933686	benign	Cataract 18	2021-08-10	criteria provided, single submitter	clinical testing
Invitae	RCV000294396	SCV002449679	benign	Cataract 18	2024-01-27	criteria provided, single submitter	clinical testing