Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics and Genomics Program, |
RCV001293178 | SCV001434176 | uncertain significance | Primary dilated cardiomyopathy | criteria provided, single submitter | research | ||
Fulgent Genetics, |
RCV002486002 | SCV002787870 | 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 | 2021-07-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004538542 | SCV004120346 | uncertain significance | TTN-related disorder | 2023-06-22 | criteria provided, single submitter | clinical testing | The TTN c.16135C>T variant is predicted to result in the amino acid substitution p.Pro5379Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.045% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179610992-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |