Submissions for variant NM_000256.3(MYBPC3):c.1227-10C>T

gnomAD frequency: 0.00005  dbSNP: rs374673836

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155710	SCV000205420	uncertain significance	not specified	2014-01-28	criteria provided, single submitter	clinical testing	The 1227-10C>T variant in MYBPC3 has not been reported in individuals with cardi omyopathy, but has been identified in 1/4116 African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs3746 73836). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing, though this information is not predictive eno ugh to rule out pathogenicity. Additional information is needed to fully assess the clinical significance of the 1227-10C>T variant.
GeneDx	RCV000155710	SCV000513753	benign	not specified	2015-05-28	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.
Color Diagnostics, LLC DBA Color Health	RCV001190191	SCV001357631	likely benign	Cardiomyopathy	2018-11-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001456352	SCV001660130	likely benign	Hypertrophic cardiomyopathy	2024-01-09	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001456352	SCV004826838	likely benign	Hypertrophic cardiomyopathy	2023-12-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004551347	SCV004759030	likely benign	MYBPC3-related disorder	2019-11-14	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).