Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001447944 | SCV001651024 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-09-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002359002 | SCV002658413 | uncertain significance | Cardiovascular phenotype | 2021-05-16 | criteria provided, single submitter | clinical testing | The c.6048C>T variant (also known as p.S2016S), located in coding exon 37 of the FLNC gene, results from a C to T substitution at nucleotide position 6048. This nucleotide substitution does not change the amino acid at codon 2016. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
CHEO Genetics Diagnostic Laboratory, |
RCV003150432 | SCV003837908 | likely benign | Cardiomyopathy | 2022-06-24 | criteria provided, single submitter | clinical testing |