Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000251443 | SCV000313553 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000388614 | SCV000357113 | benign | SEPN1-related disorder | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Gene |
RCV001722338 | SCV000534650 | benign | not provided | 2019-07-25 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22426012) |
Athena Diagnostics | RCV000251443 | SCV000615144 | likely benign | not specified | 2017-06-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000525330 | SCV000634406 | benign | Eichsfeld type congenital muscular dystrophy | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002500917 | SCV002806040 | likely benign | Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion | 2022-02-15 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001722338 | SCV005264042 | likely benign | not provided | criteria provided, single submitter | not provided |