Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587973 | SCV000696334 | uncertain significance | not provided | 2017-03-16 | criteria provided, single submitter | clinical testing | Variant summary: The MYBPC3 c.909-8T>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 107442 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available. |
Invitae | RCV001462101 | SCV001666012 | likely benign | Hypertrophic cardiomyopathy | 2017-11-06 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798907 | SCV002042240 | likely benign | Cardiomyopathy | 2020-05-11 | criteria provided, single submitter | clinical testing |