ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4226G>A (p.Arg1409Gln) (rs370507983)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000120956 SCV000594631 likely benign not specified 2015-11-10 criteria provided, single submitter clinical testing
Invitae RCV000544791 SCV000626203 likely benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000120956 SCV000085124 not provided not specified 2013-09-19 no assertion provided reference population

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