Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000534555 | SCV000642902 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-06-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001562487 | SCV001785258 | uncertain significance | not provided | 2020-07-08 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge |
Preventiongenetics, |
RCV003409794 | SCV004116362 | uncertain significance | TTN-related condition | 2022-09-07 | criteria provided, single submitter | clinical testing | The TTN c.27425C>T variant is predicted to result in the amino acid substitution p.Ser9142Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179577224-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |