Submissions for variant NM_000503.6(EYA1):c.1699-8T>C

gnomAD frequency: 0.00048  dbSNP: rs201537030

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724414	SCV000226735	uncertain significance	not provided	2015-01-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000318814	SCV000474823	benign	Branchiootic 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.
Illumina Laboratory Services, Illumina	RCV000378076	SCV000474824	benign	Otofaciocervical 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000175273	SCV000711024	likely benign	not specified	2017-06-06	criteria provided, single submitter	clinical testing	c.1699-8T>C in intron 16 of EYA1: This variant is not expected to have clinical significance because a T>C change at this position does not diverge from the spl ice consensus sequence and is therefore unlikely to impact splicing. It has been identified in 0.2% (52/30260) of South Asian chromosomes by the Genome Aggregat ion Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs201537030).
Labcorp Genetics (formerly Invitae), Labcorp	RCV002229004	SCV001015508	benign	Melnick-Fraser syndrome	2025-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000724414	SCV001795167	likely benign	not provided	2021-05-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724414	SCV004155933	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	EYA1: BP4, BS1