Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731808 | SCV000859661 | uncertain significance | not provided | 2018-02-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000731808 | SCV002504178 | likely benign | not provided | 2021-06-01 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Ambry Genetics | RCV002360856 | SCV002624663 | uncertain significance | Cardiovascular phenotype | 2019-12-19 | criteria provided, single submitter | clinical testing | The p.A12812S variant (also known as c.38434G>T), located in coding exon 140 of the TTN gene, results from a G to T substitution at nucleotide position 38434. The alanine at codon 12812 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. This alteration was identified in one individual with arrhythmogenic right ventricular cardiomyopathy (ARVC) (Taylor M et al. Circulation, 2011 Aug;124:876-85). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000731808 | SCV003822302 | uncertain significance | not provided | 2020-02-14 | criteria provided, single submitter | clinical testing | |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV001029810 | SCV001192593 | uncertain significance | Hypertrophic cardiomyopathy 9 | 2019-06-25 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV000731808 | SCV001923946 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000731808 | SCV001955351 | uncertain significance | not provided | no assertion criteria provided | clinical testing |