Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665243 | SCV000789332 | uncertain significance | Propionic acidemia | 2017-01-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000665243 | SCV000948169 | uncertain significance | Propionic acidemia | 2022-08-10 | criteria provided, single submitter | clinical testing | This variant, c.11_28dup, results in the insertion of 6 amino acid(s) of the PCCB protein (p.Ala4_Ala9dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs777359703, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with PCCB-related conditions. ClinVar contains an entry for this variant (Variation ID: 550487). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Genome |
RCV000665243 | SCV000840318 | not provided | Propionic acidemia | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. | |
Natera, |
RCV000665243 | SCV002081457 | uncertain significance | Propionic acidemia | 2019-10-28 | no assertion criteria provided | clinical testing |