ClinVar Miner

Submissions for variant NM_001113378.1(FANCI):c.2997C>T (p.Ser999=) (rs138675752)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000247675 SCV000594720 likely benign not specified 2016-10-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000229685 SCV000394217 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000229685 SCV000285895 benign Fanconi anemia 2017-12-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000247675 SCV000306645 likely benign not specified criteria provided, single submitter clinical testing

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