Submissions for variant NM_000257.4(MYH7):c.4520-25C>T

gnomAD frequency: 0.00787  dbSNP: rs45503601

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000168905	SCV000303240	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000629119	SCV000750033	benign	Hypertrophic cardiomyopathy	2024-01-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001589049	SCV001159507	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001589049	SCV001824742	likely benign	not provided	2018-06-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15483641)
CeGaT Center for Human Genetics Tuebingen	RCV001589049	SCV002545161	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	MYH7: BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV002478523	SCV002801895	benign	Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy	2021-11-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000168905	SCV001927113	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000168905	SCV001959520	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000168905	SCV001969118	benign	not specified		no assertion criteria provided	clinical testing