Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001429607 | SCV001632324 | likely benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001429607 | SCV001999460 | uncertain significance | not provided | 2023-03-21 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003399225 | SCV004120249 | uncertain significance | FAT4-related condition | 2023-04-04 | criteria provided, single submitter | clinical testing | The FAT4 c.829G>A variant is predicted to result in the amino acid substitution p.Ala277Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.039% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-126238395-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |