Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194288 | SCV000248468 | uncertain significance | not specified | 2014-09-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000766886 | SCV000618951 | uncertain significance | not provided | 2020-11-30 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV003444218 | SCV004171281 | uncertain significance | Microcephalic osteodysplastic primordial dwarfism type II | criteria provided, single submitter | clinical testing | ||
Prevention |
RCV003955167 | SCV004783366 | uncertain significance | PCNT-related condition | 2023-12-27 | criteria provided, single submitter | clinical testing | The PCNT c.3710A>G variant is predicted to result in the amino acid substitution p.His1237Arg. 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. |