Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543732 | SCV000651098 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2022-11-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002491081 | SCV002778728 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2021-10-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003159898 | SCV003859337 | uncertain significance | Cardiovascular phenotype | 2023-01-05 | criteria provided, single submitter | clinical testing | The p.R1995H variant (also known as c.5984G>A), located in coding exon 36 of the FLNC gene, results from a G to A substitution at nucleotide position 5984. The arginine at codon 1995 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |