Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000598092 | SCV000704761 | uncertain significance | not provided | 2018-03-29 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000688651 | SCV000816273 | likely benign | Niemann-Pick disease, type C1 | 2025-01-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000688651 | SCV000896684 | uncertain significance | Niemann-Pick disease, type C1 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000688651 | SCV001282243 | uncertain significance | 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Ce |
RCV000598092 | SCV001371368 | uncertain significance | not provided | 2020-06-01 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000688651 | SCV001528303 | uncertain significance | Niemann-Pick disease, type C1 | 2018-04-11 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Natera, |
RCV000688651 | SCV001455863 | likely benign | Niemann-Pick disease, type C1 | 2020-09-16 | no assertion criteria provided | clinical testing | |
Prevention |
RCV003935608 | SCV004751689 | likely benign | NPC1-related disorder | 2022-02-10 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |