Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727717 | SCV000855069 | uncertain significance | not provided | 2018-08-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000727717 | SCV001991709 | uncertain significance | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | 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; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26582918) |
Revvity Omics, |
RCV000727717 | SCV003825890 | uncertain significance | not provided | 2019-02-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003411666 | SCV004115262 | uncertain significance | TTN-related condition | 2022-12-10 | criteria provided, single submitter | clinical testing | The TTN c.101890C>T variant is predicted to result in the amino acid substitution p.Arg33964Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0046% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179399452-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |