Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV004017435 | SCV000205927 | uncertain significance | not provided | 2023-04-12 | criteria provided, single submitter | clinical testing | The p.Gly11448Ser variant in TTN has not been previously reported in the literature in individuals with cardiomyopathy but has been identified by other clinical laboratories in ClinVar (Variation ID 179422). This variant has also been identified in 0.0029% (2/68000) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org, v.3.1.2). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting. |
Invitae | RCV000460348 | SCV000543021 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-08-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765575 | SCV000896890 | 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 | 2021-08-17 | criteria provided, single submitter | clinical testing |