Submissions for variant NM_002473.6(MYH9):c.5818G>A (p.Gly1940Arg)

gnomAD frequency: 0.00156  dbSNP: rs140588099

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037571	SCV000061229	benign	not specified	2013-01-30	criteria provided, single submitter	clinical testing	Gly1940Arg in exon 41 of MYH9: This variant is not expected to have clinical sig nificance because it has been identified in 0.3% (25/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/; dbSNP rs140588099)
Illumina Laboratory Services, Illumina	RCV000370238	SCV000438296	likely benign	Autosomal dominant nonsyndromic hearing loss 17	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000259717	SCV000438297	benign	MYH9-related disorder	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	RCV000960213	SCV001107172	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000960213	SCV001472111	benign	not provided	2019-12-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000960213	SCV001766430	likely benign	not provided	2020-10-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30720677)
CeGaT Center for Human Genetics Tuebingen	RCV000960213	SCV004147781	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	MYH9: PP2, BS2
PreventionGenetics, part of Exact Sciences	RCV003914939	SCV004733278	likely benign	MYH9-related condition	2020-03-06	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000960213	SCV001930713	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000960213	SCV001974271	likely benign	not provided		no assertion criteria provided	clinical testing