ClinVar Miner

Submissions for variant NM_033084.5(FANCD2):c.1401G>A (p.Thr467=) (rs12330369)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508220 SCV000603563 benign not specified 2016-08-08 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000607825 SCV000734237 benign Fanconi anemia, complementation group D2 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354534 SCV000439478 benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing

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