ClinVar Miner

Submissions for variant NM_173472.2(FANCD2OS):c.44-8784C>T (rs121917786)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000012818 SCV001306349 uncertain significance Fanconi anemia, complementation group D2 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV001265744 SCV001443913 pathogenic Inborn genetic diseases 2019-02-04 criteria provided, single submitter clinical testing
OMIM RCV000012818 SCV000033058 pathogenic Fanconi anemia, complementation group D2 2001-02-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV000012818 SCV001364797 pathogenic Fanconi anemia, complementation group D2 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.