Submissions for variant NM_002473.6(MYH9):c.1491C>T (p.Ile497=)

gnomAD frequency: 0.00032  dbSNP: rs146487404

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151349	SCV000199328	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Ile497Ile in Exon 13 of MYH9: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1/3738 African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs146487404).
Eurofins Ntd Llc (ga)	RCV000727283	SCV000707219	uncertain significance	not provided	2017-05-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000727283	SCV001982958	likely benign	not provided	2021-04-08	criteria provided, single submitter	clinical testing
Invitae	RCV000727283	SCV002400868	likely benign	not provided	2023-02-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927457	SCV004739083	likely benign	MYH9-related condition	2022-01-09	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).