Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040648 | SCV000064339 | likely benign | not specified | 2012-04-18 | criteria provided, single submitter | clinical testing | Leu23938Leu in Exon 275 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 1/3042 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS;). Leu23938Leu in Exon 275 of TTN (allele freque ncy = 0.03%, 1/3042) ** |
Invitae | RCV000937559 | SCV001083347 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-07-27 | criteria provided, single submitter | clinical testing |