Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000532737 | SCV000642979 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-05-18 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV003403299 | SCV004121148 | uncertain significance | TTN-related condition | 2023-10-02 | criteria provided, single submitter | clinical testing | The TTN c.32005C>T variant is predicted to result in the amino acid substitution p.Pro10669Ser. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |