ClinVar Miner

Submissions for variant NM_033084.5(FANCD2):c.2022-5C>T (rs4019784)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202851 SCV000258224 likely benign not specified 2015-10-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368728 SCV000439584 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000202851 SCV000603565 benign not specified 2016-08-08 criteria provided, single submitter clinical testing
Invitae RCV000860369 SCV001000402 likely benign not provided 2018-09-26 criteria provided, single submitter clinical testing
Mendelics RCV000987102 SCV001136300 likely benign Fanconi anemia, complementation group A 2019-05-28 criteria provided, single submitter clinical testing

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