Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000464658 | SCV000542492 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-09-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000618980 | SCV000735824 | uncertain significance | Cardiovascular phenotype | 2017-03-21 | criteria provided, single submitter | clinical testing | The p.K699E variant (also known as c.2095A>G), located in coding exon 12 of the TTN gene, results from an A to G substitution at nucleotide position 2095. The lysine at codon 699 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Athena Diagnostics Inc | RCV000993399 | SCV001146341 | uncertain significance | not provided | 2019-04-10 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000993399 | SCV004225941 | uncertain significance | not provided | 2023-05-02 | criteria provided, single submitter | clinical testing | BP4 |