Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147230 | SCV000194599 | uncertain significance | Microcephalic osteodysplastic primordial dwarfism type II | 2014-02-13 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000147230 | SCV000896823 | uncertain significance | Microcephalic osteodysplastic primordial dwarfism type II | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003927440 | SCV004742726 | uncertain significance | PCNT-related condition | 2024-01-12 | criteria provided, single submitter | clinical testing | The PCNT c.8873G>A variant is predicted to result in the amino acid substitution p.Arg2958His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.033% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |