Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000180479 | SCV000232932 | benign | not specified | 2014-12-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000602955 | SCV001013756 | likely benign | Niemann-Pick disease type C1 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000602955 | SCV001286950 | benign | Niemann-Pick disease type C1 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Diagnostic Laboratory, |
RCV000602955 | SCV000733767 | benign | Niemann-Pick disease type C1 | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000602955 | SCV000745714 | likely benign | Niemann-Pick disease type C1 | 2017-06-26 | no assertion criteria provided | clinical testing |