Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000547390 | SCV000642596 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000762302 | SCV000892606 | uncertain significance | not provided | 2018-04-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002483429 | SCV002794476 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-09-07 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000762302 | SCV004229370 | uncertain significance | not provided | 2022-12-14 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). This variant is in a coding region of the longest isoform of TTN, inferred model NM_001267550.1, however, it is in a non-coding region of the main skeletal and cardiac muscle isoforms of TTN. |