Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000552773 | SCV000650884 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000998907 | SCV001155253 | uncertain significance | not provided | 2019-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000998907 | SCV001995536 | uncertain significance | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing | Identified in a proband and father with HCM in published literature; however, it is unclear whether these individuals harbored additional cardiogenetic variants (PMID: 36286284); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 36286284) |
Ambry Genetics | RCV002456209 | SCV002739343 | uncertain significance | Cardiovascular phenotype | 2022-08-26 | criteria provided, single submitter | clinical testing | The p.V368M variant (also known as c.1102G>A), located in coding exon 7 of the FLNC gene, results from a G to A substitution at nucleotide position 1102. The valine at codon 368 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000998907 | SCV003833097 | uncertain significance | not provided | 2023-09-07 | criteria provided, single submitter | clinical testing |