Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079392 | SCV000111271 | benign | not specified | 2015-04-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001540829 | SCV000883922 | benign | not provided | 2023-10-16 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000011083 | SCV001329047 | likely benign | G6PD deficiency | 2018-01-13 | 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. |
Invitae | RCV001510602 | SCV001717689 | benign | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001540829 | SCV001758757 | benign | not provided | 2018-07-09 | criteria provided, single submitter | clinical testing | |
Dunham Lab, |
RCV001510602 | SCV002599149 | benign | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2022-08-12 | criteria provided, single submitter | curation | Variant found in over 150 individuals without G6PD deficiency (BS2) and the activity in red blood cells is within the normal range (BS3). Previously interpreted as bening (BP6). Post_P 0.00015 (odds of pathogenicity 0.0014, Prior_P 0.1). |
Ce |
RCV001540829 | SCV004165985 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | G6PD: BP4 |
OMIM | RCV000011083 | SCV000031310 | benign | G6PD deficiency | 2014-08-26 | no assertion criteria provided | literature only |