Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194472 | SCV000248485 | uncertain significance | not specified | 2015-01-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003401055 | SCV004105772 | uncertain significance | PCNT-related condition | 2022-09-30 | criteria provided, single submitter | clinical testing | The PCNT c.6651G>T variant is not predicted to result in an amino acid change (p.=). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/21-47836483-G-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Invitae | RCV003765232 | SCV004611223 | likely benign | not provided | 2023-02-27 | criteria provided, single submitter | clinical testing |