Submissions for variant NM_002471.4(MYH6):c.2928+5G>A

gnomAD frequency: 0.00172  dbSNP: rs28730772

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037464	SCV000061122	likely benign	not specified	2015-04-28	criteria provided, single submitter	clinical testing	c.2829+5G>A in intron 22 of MYH6: This variant is not expected to have clinical significance because it has been identified in 0.3% (190/66740) European chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs28730772).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000230824	SCV000287401	likely benign	Hypertrophic cardiomyopathy 14	2025-01-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000248019	SCV000318283	likely benign	Cardiovascular phenotype	2018-07-19	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.
GeneDx	RCV000590639	SCV000527900	likely benign	not provided	2020-10-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23396983, 26656175, 32277046)
Phosphorus, Inc.	RCV000577962	SCV000679869	benign	Atrial septal defect 3	2017-08-01	criteria provided, single submitter	clinical testing
Phosphorus, Inc.	RCV000578015	SCV000679870	benign	Dilated cardiomyopathy 1EE	2017-08-01	criteria provided, single submitter	clinical testing
Phosphorus, Inc.	RCV000230824	SCV000679871	benign	Hypertrophic cardiomyopathy 14	2017-08-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000590639	SCV000697924	benign	not provided	2016-02-29	criteria provided, single submitter	clinical testing	Variant summary: The c.2928+5G>A variant affects a conserved intronic nucleotide. One in-silico tool predicts damaging outcome for this variant. 4/5 programs in Alamut predict that this variant does not significantly affect normal splicing. This variant is found in 214/121412 control chromosomes at a frequency of 0.0017626, which exceeds the predicted maximal expected frequency of a pathogenic allele (0.000025), suggesting this variant is benign. This variant has been reported in DCM and HCM patients, including one patient who also carries a TTN c.39069T>A/p.Tyr13023X (classified likely pathogenic in ClinVar). In addition, one clinical laboratory classified this variant as likely benign. Taken together, this variant was classified as benign.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770448	SCV000901891	benign	Cardiomyopathy	2020-06-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000590639	SCV001157740	likely benign	not provided	2023-10-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000590639	SCV004033283	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	MYH6: BP4, BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000590639	SCV001743333	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037464	SCV001923214	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000590639	SCV001927804	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037464	SCV001957637	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037464	SCV001969665	benign	not specified		no assertion criteria provided	clinical testing