Submissions for variant NM_000256.3(MYBPC3):c.1224-61_1224-53dup

dbSNP: rs1565628380

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001524886	SCV001734857	uncertain significance	Cardiomyopathy	2023-01-27	criteria provided, single submitter	clinical testing	This variant causes _x0008_a duplication of 9 nucleotides at -61 position in intron 13 of the MYBPC3 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYBPC3-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001524886	SCV004239335	benign	Cardiomyopathy	2023-05-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004550298	SCV004771349	likely benign	MYBPC3-related disorder	2024-02-01	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).