Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220245 | SCV000271029 | likely benign | not specified | 2015-03-30 | criteria provided, single submitter | clinical testing | p.Asp13576Asp in exon 207 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has also been identified in 3/66724 Eur opean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org). |
Invitae | RCV000919540 | SCV001064887 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-09-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003430773 | SCV004152409 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |
Prevention |
RCV003937845 | SCV004749129 | likely benign | TTN-related condition | 2019-05-24 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |