Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000788732 | SCV000927953 | uncertain significance | not provided | 2018-09-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001869210 | SCV002294501 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000788732 | SCV003831443 | uncertain significance | not provided | 2019-07-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000788732 | SCV003845676 | uncertain significance | not provided | 2022-09-21 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25794154) |
Prevention |
RCV003411733 | SCV004109955 | uncertain significance | FLNC-related disorder | 2023-02-21 | criteria provided, single submitter | clinical testing | The FLNC c.3464C>T variant is predicted to result in the amino acid substitution p.Pro1155Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-128484983-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |