ClinVar Miner

Submissions for variant NM_022725.3(FANCF):c.557C>T (p.Ala186Val) (rs113910234)

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Total submissions: 6
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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 RCV000121023 SCV000258191 likely benign not specified 2015-03-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000121023 SCV000247350 benign not specified 2016-09-13 criteria provided, single submitter clinical testing
ITMI RCV000121023 SCV000085191 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000227171 SCV000370166 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000227171 SCV000290674 benign Fanconi anemia 2018-01-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000121023 SCV000314120 benign not specified criteria provided, single submitter clinical testing

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