Submissions for variant NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu)

gnomAD frequency: 0.00134  dbSNP: rs145139708

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037567	SCV000061225	likely benign	not specified	2017-03-26	criteria provided, single submitter	clinical testing	p.Lys1775Glu in exon 38 of MYH9: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (75/25454) of Finnish chromos omes, including 1 homozygote, by the Genome Aggregation Database (gnomAD, http:/ /gnomad.broadinstitute.org; dbSNP rs145139708).
Illumina Laboratory Services, Illumina	RCV000315373	SCV000438312	likely benign	MYH9-related disorder	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000353893	SCV000438313	likely benign	Autosomal dominant nonsyndromic hearing loss 17	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514769	SCV000610237	likely benign	not provided	2017-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000514769	SCV001036296	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000514769	SCV001794045	likely benign	not provided	2020-10-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29090586)
CeGaT Center for Human Genetics Tuebingen	RCV000514769	SCV002585927	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	MYH9: BS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000514769	SCV003799760	likely benign	not provided	2023-08-25	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000514769	SCV001798500	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000037567	SCV001931105	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000514769	SCV001971624	likely benign	not provided		no assertion criteria provided	clinical testing