Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000391218 | SCV000416370 | uncertain significance | Thrombophilia due to protein C deficiency, autosomal dominant | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Invitae | RCV000391218 | SCV001613260 | likely benign | Thrombophilia due to protein C deficiency, autosomal dominant | 2023-04-18 | criteria provided, single submitter | clinical testing | |
Phosphorus, |
RCV001823725 | SCV002073440 | likely benign | not specified | 2022-01-14 | criteria provided, single submitter | clinical testing | This variant is located 10bp away from the canonical splice-site in intron 7 of the PROC gene (transcript: NM_000312.3). This variant has an entry in ClinVar (331108) NM_000312.4(PROC):c.678+10G>A. This variant occurred in gnomAD with a total MAF of 0.0041% and the highest MAF of 0.0327% in the African population. This position is not conserved. In silico splicing algorithms predicted that this variant will not have an impact on splicing (not found in scSNV). The variant has not occurred in the literature in association with disease. Considering the evidence above, it has been classified as Likely Benign. |