Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000434380 | SCV000514734 | likely benign | not specified | 2017-12-27 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Labcorp Genetics |
RCV000474127 | SCV000562810 | likely benign | Hereditary spastic paraplegia 7 | 2024-07-07 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000474127 | SCV001278082 | uncertain significance | Hereditary spastic paraplegia 7 | 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. |
| Ambry Genetics | RCV002524805 | SCV003547694 | uncertain significance | Inborn genetic diseases | 2021-05-03 | criteria provided, single submitter | clinical testing | The c.1325-6C>T intronic alteration consists of a C to T substitution 6 nucleotides before coding exon 10 in the SPG7 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Ce |
RCV003456395 | SCV004184622 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | SPG7: BP4, BS2 |