Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000643142 | SCV000764829 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2018-01-02 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV003403481 | SCV004119186 | uncertain significance | TTN-related condition | 2023-06-27 | criteria provided, single submitter | clinical testing | The TTN c.79333C>T variant is predicted to result in the amino acid substitution p.Arg26445Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179431526-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |