ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3055C>T (p.Arg1019Trp) (rs149167939)

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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 RCV000499688 SCV000594723 uncertain significance not specified 2017-04-17 criteria provided, single submitter clinical testing
Invitae RCV000550556 SCV000626309 likely benign Fanconi anemia 2020-10-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV001293992 SCV001482734 uncertain significance Fanconi anemia, complementation group I 2019-07-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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