Submissions for variant NM_002473.6(MYH9):c.5277C>T (p.Ile1759=)

gnomAD frequency: 0.00011  dbSNP: rs183105164

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247728	SCV000309075	likely benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000882879	SCV001026142	benign	not provided	2024-10-29	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000247728	SCV001365829	likely benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Ile1759Ile in exon 38 of MYH9: This variant is not expected to have clinical significance because it has been identified in 0.54% (63/11570) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs183105164).
GeneDx	RCV000882879	SCV001757269	likely benign	not provided	2021-02-16	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000247728	SCV002068968	likely benign	not specified	2018-04-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004021008	SCV004944400	likely benign	Inborn genetic diseases	2023-12-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000882879	SCV005877976	likely benign	not provided	2024-03-29	criteria provided, single submitter	clinical testing