Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000500388 | SCV000596359 | uncertain significance | not specified | 2015-09-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003409702 | SCV004114728 | uncertain significance | PCNT-related condition | 2023-08-28 | criteria provided, single submitter | clinical testing | The PCNT c.1849G>C variant is predicted to result in the amino acid substitution p.Glu617Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/21-47775454-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |