Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000643148 | SCV000764835 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-09-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002264968 | SCV002546956 | uncertain significance | not provided | 2022-01-06 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 535270) |
Preventiongenetics, |
RCV003411519 | SCV004109732 | uncertain significance | TTN-related condition | 2023-05-09 | criteria provided, single submitter | clinical testing | The TTN c.71140G>A variant is predicted to result in the amino acid substitution p.Glu23714Lys. To our knowledge, this variant has not been reported in the literature. This variant is present in one allele out ~248,000 allele in the gnomAD database (http://gnomad.broadinstitute.org/variant/2-179439719-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |