ClinVar Miner

Submissions for variant NM_004629.1(FANCG):c.1538G>A (p.Arg513Gln) (rs17885240)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229666 SCV000288623 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121035 SCV000310551 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317116 SCV000484369 likely benign Inclusion Body Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353275 SCV000484370 likely benign Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000121035 SCV000594705 benign not specified 2016-11-14 criteria provided, single submitter clinical testing
ITMI RCV000121035 SCV000085203 not provided not specified 2013-09-19 no assertion provided reference population

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