ClinVar Miner

Submissions for variant NM_033084.5(FANCD2):c.1367T>G (p.Leu456Arg) (rs35782247)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000120985 SCV000305857 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094941 SCV000439476 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). 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000434788 SCV000511003 benign not provided 2016-12-14 criteria provided, single submitter clinical testing
Invitae RCV000406228 SCV000558538 benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000120985 SCV000603570 benign not specified 2017-03-29 criteria provided, single submitter clinical testing
ITMI RCV000120985 SCV000085153 not provided not specified 2013-09-19 no assertion provided reference population

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