ClinVar Miner

Submissions for variant NM_033084.5(FANCD2):c.2484G>A (p.Lys828=) (rs55980657)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472960 SCV000558525 benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000502408 SCV000594690 likely benign not specified 2016-01-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000502408 SCV000603578 benign not specified 2017-04-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001149874 SCV001310873 likely benign 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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