Submissions for variant NM_002471.4(MYH6):c.4594C>T (p.Arg1532Cys)

gnomAD frequency: 0.00022  dbSNP: rs201827489

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226741	SCV000287428	likely benign	Hypertrophic cardiomyopathy 14	2024-07-18	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000415142	SCV000492556	uncertain significance	Primary dilated cardiomyopathy; Migraine; Hemiplegia	2014-11-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002338720	SCV002636331	likely benign	Cardiovascular phenotype	2020-04-29	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	RCV001701711	SCV005326944	uncertain significance	not provided	2023-07-26	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701711	SCV001931820	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001701711	SCV001951184	likely benign	not provided		no assertion criteria provided	clinical testing