Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001421126 | SCV001623644 | likely benign | Carpenter syndrome | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003405654 | SCV004114415 | uncertain significance | RAB23-related disorder | 2023-12-08 | criteria provided, single submitter | clinical testing | The RAB23 c.551C>T variant is predicted to result in the amino acid substitution p.Thr184Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.060% of alleles in individuals of East Asian descent in gnomAD, which is likely too common for an undocumented disease-causing variant. Although we suspect this variant may be benign, at this time its clinical significance is uncertain due to the absence of conclusive functional and genetic evidence. |
Natera, |
RCV001826228 | SCV002083435 | likely benign | RAB23-related Carpenter syndrome | 2019-10-24 | no assertion criteria provided | clinical testing |