ClinVar Miner

Submissions for variant NM_001113378.1(FANCI):c.2367G>T (p.Ala789=) (rs11857960)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000242536 SCV000603589 benign not specified 2016-12-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397172 SCV000394209 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000397172 SCV000558941 benign Fanconi anemia 2017-08-04 criteria provided, single submitter clinical testing
PreventionGenetics RCV000242536 SCV000306641 benign not specified criteria provided, single submitter clinical testing

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