Submissions for variant NM_000256.3(MYBPC3):c.852-10C>G

dbSNP: rs750425291

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000168760	SCV000271999	uncertain significance	not specified	2019-08-29	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The c.852-10C>G variant in MYBPC3 has been reported in the literature in 1 individual with HCM (Liu 2013). It has been identified in 2/15996 East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of this variant is uncertain, these data suggest that it is more likely to be benign. ACMG/AMP Criteria applied: BP4.
GeneDx	RCV001721095	SCV000520821	likely benign	not provided	2019-06-04	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23711808)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798604	SCV002042235	uncertain significance	Cardiomyopathy	2023-03-17	criteria provided, single submitter	clinical testing
Invitae	RCV002054002	SCV002446609	likely benign	Hypertrophic cardiomyopathy	2023-08-24	criteria provided, single submitter	clinical testing