Submissions for variant NM_002473.6(MYH9):c.5181G>A (p.Leu1727=)

gnomAD frequency: 0.00292  dbSNP: rs115170675

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000217328	SCV000269285	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	"Leu1727Leu in Exon 37 of MYH9: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.8% (30/3738) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs115170675)."
PreventionGenetics, part of Exact Sciences	RCV000217328	SCV000309073	likely benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000882783	SCV001026041	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000882783	SCV001772250	likely benign	not provided	2021-03-12	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000882783	SCV003799330	benign	not provided	2022-07-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000882783	SCV004147791	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	MYH9: BP4, BP7, BS2