Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156247 | SCV000205963 | likely benign | not specified | 2013-12-26 | criteria provided, single submitter | clinical testing | Val13226Ile in exon 202 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, more than 10 mammals have an isoleucine (Ile) at this position despite high nearby amino acid conservation. In addition, computational analyses (AlignGVGD, PolyPhen2, SIFT) do not suggest a high likelihood of impact to the protein. |
Invitae | RCV000642984 | SCV000764671 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-10-10 | criteria provided, single submitter | clinical testing |