Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723647 | SCV000114381 | uncertain significance | not provided | 2013-09-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000723647 | SCV000719325 | likely benign | not provided | 2019-05-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003390780 | SCV004121153 | uncertain significance | TTN-related condition | 2023-05-12 | criteria provided, single submitter | clinical testing | The TTN c.39230T>C variant is predicted to result in the amino acid substitution p.Val13077Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.010% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179516888-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |