Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV004552617 | SCV004116393 | uncertain significance | SPTA1-related disorder | 2022-12-09 | criteria provided, single submitter | clinical testing | The SPTA1 c.2216G>A variant is predicted to result in the amino acid substitution p.Arg739His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.054% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-158636110-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Revvity Omics, |
RCV003491384 | SCV004237672 | uncertain significance | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003491384 | SCV004515046 | benign | not provided | 2023-07-28 | criteria provided, single submitter | clinical testing |