Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000861084 | SCV001001303 | likely benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001150525 | SCV001311598 | benign | Xeroderma pigmentosum, group C | 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. |
Genome- |
RCV001150525 | SCV002513993 | benign | Xeroderma pigmentosum, group C | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257446 | SCV002537512 | likely benign | Xeroderma pigmentosum | 2020-11-17 | criteria provided, single submitter | curation | |
ITMI | RCV000122330 | SCV000086560 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Prevention |
RCV003905170 | SCV004731072 | benign | XPC-related disorder | 2024-08-14 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |