Submissions for variant NM_000257.4(MYH7):c.4953+13A>T

dbSNP: rs373509029

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035940	SCV000059591	likely benign	not specified	2013-01-12	criteria provided, single submitter	clinical testing	4953+13A>T in intron 34 of MYBPC3: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. 4 953+13A>T in intron 34 of MYBPC3 (allele frequency = n/a)
GeneDx	RCV000035940	SCV000526379	likely benign	not specified	2016-03-31	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054576	SCV002381970	likely benign	Hypertrophic cardiomyopathy	2023-09-28	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496547	SCV002812414	likely 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	2021-10-05	criteria provided, single submitter	clinical testing