ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) (rs199510538)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000331306 SCV000481919 likely benign Fanconi Anemia, X-Linked 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388194 SCV000481920 likely benign VACTERL association with hydrocephalus 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000500090 SCV000594666 likely benign not specified 2017-01-10 criteria provided, single submitter clinical testing
Invitae RCV000524700 SCV000626270 benign Fanconi anemia 2017-12-30 criteria provided, single submitter clinical testing

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