Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000825928 | SCV000967413 | uncertain significance | not specified | 2018-05-03 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The *5G>A variant i n GDNF has not been reported in individuals with pulmonary disease, but has been identified in 0.1% (25/25794) of Finnish chromosomes by the Genome Aggregation Database (gnomad.broadinstitute.org; dbSNP ID: rs145996577). This variant occurs in the 3' UTR and its impact is unclear. In summary, the clinical significance of the c.*5G>C variant is uncertain, though its frequency suggests that it is mo re likely benign. ACMG/AMP criteria applied: BS1_Supporting. |
| Illumina Laboratory Services, |
RCV001154267 | SCV001315609 | likely benign | Hirschsprung disease, susceptibility to, 3 | 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |