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 likely benign Fanconi anemia, complementation group D2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
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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