Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000643922 | SCV000765609 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-27 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV001449778 | SCV001653053 | uncertain significance | not specified | 2020-06-15 | criteria provided, single submitter | clinical testing | The p.Arg32672Trp variant in TTN has not been previously reported in individuals with cardiomyopathy but has been identified in 3/248812 of pan-ethnic chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant has also been reported by other clinical laboratories in ClinVar (Variation ID 535752). 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. |
Revvity Omics, |
RCV003140031 | SCV003827255 | uncertain significance | not provided | 2020-10-15 | criteria provided, single submitter | clinical testing |