Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002790987 | SCV003034748 | benign | not provided | 2023-05-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004741335 | SCV005365559 | uncertain significance | PCGF2-related disorder | 2024-09-04 | no assertion criteria provided | clinical testing | The PCGF2 c.841A>C variant is predicted to result in the amino acid substitution p.Thr281Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |