ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) (rs17233141)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514362 SCV000610421 likely benign not provided 2017-03-20 criteria provided, single submitter clinical testing
GeneDx RCV000120929 SCV000512960 likely benign not specified 2015-12-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000120929 SCV000594634 likely benign not specified 2016-01-06 criteria provided, single submitter clinical testing
ITMI RCV000120929 SCV000085097 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000206151 SCV000399841 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000206151 SCV000262266 benign Fanconi anemia 2018-01-10 criteria provided, single submitter clinical testing
McDonnell Genome Institute,Washington University in St. Louis RCV000202580 SCV000257331 pathogenic Fanconi anemia, complementation group A 2015-10-22 no assertion criteria provided research

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