Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000245770 | SCV000314913 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV001094245 | SCV000396884 | likely benign | Fanconi anemia complementation group P | 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Invitae | RCV000326625 | SCV000558652 | benign | Fanconi anemia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV001094245 | SCV004015483 | benign | Fanconi anemia complementation group P | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV000245770 | SCV001364669 | likely benign | not specified | 2012-08-31 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker. |
Laboratory of Diagnostic Genome Analysis, |
RCV001572831 | SCV001797822 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000245770 | SCV001808701 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001572831 | SCV002034187 | likely benign | not provided | no assertion criteria provided | clinical testing |