Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178037 | SCV000230023 | benign | not specified | 2014-09-23 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000385074 | SCV000358098 | benign | Carnitine palmitoyltransferase II deficiency | 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. |
Invitae | RCV000385074 | SCV000632612 | benign | Carnitine palmitoyltransferase II deficiency | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000178037 | SCV001475802 | benign | not specified | 2019-09-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001706139 | SCV001867716 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001706139 | SCV002049010 | benign | not provided | 2023-10-16 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000178037 | SCV003922504 | benign | not specified | 2023-03-02 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003454458 | SCV004179343 | benign | Encephalopathy, acute, infection-induced, susceptibility to, 4 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003454455 | SCV004179344 | benign | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003454457 | SCV004179345 | benign | Carnitine palmitoyl transferase II deficiency, neonatal form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003454456 | SCV004179346 | benign | Carnitine palmitoyl transferase II deficiency, myopathic form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000385074 | SCV001461217 | benign | Carnitine palmitoyltransferase II deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |