Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV001665552 | SCV001880252 | uncertain significance | not provided | 2021-03-02 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002488459 | SCV002787618 | 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 | 2021-10-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004542067 | SCV004777610 | uncertain significance | TTN-related disorder | 2024-01-16 | criteria provided, single submitter | clinical testing | The TTN c.38845C>T variant is predicted to result in the amino acid substitution p.Pro12949Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.010% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |