Submissions for variant NM_000503.6(EYA1):c.1755T>C (p.His585=)

gnomAD frequency: 0.35033  dbSNP: rs10103397

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041393	SCV000065087	benign	not specified	2010-10-28	criteria provided, single submitter	clinical testing	The His585His variant is a common benign variant present in ~40% of the African population, ~75% of the Asian population, ~20% of the Caucasian population (dbSN P - rs10103397).
PreventionGenetics, part of Exact Sciences	RCV000041393	SCV000316421	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000329591	SCV000474817	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.
Illumina Laboratory Services, Illumina	RCV000370365	SCV000474818	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.
Invitae	RCV001520614	SCV001729754	benign	Melnick-Fraser syndrome	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001636631	SCV001849557	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000329591	SCV001933374	benign	Otofaciocervical syndrome 1	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000370365	SCV001933385	benign	Branchiootic syndrome 1	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701584	SCV001933397	benign	Branchiootorenal syndrome 1	2021-08-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000041393	SCV001741247	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000041393	SCV001931335	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041393	SCV001954437	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000041393	SCV001972254	benign	not specified		no assertion criteria provided	clinical testing