ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) (rs41309679)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000241904 SCV000305851 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301775 SCV000481933 benign VACTERL association with hydrocephalus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365780 SCV000481934 benign Fanconi Anemia, X-Linked 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000461854 SCV000558853 benign Fanconi anemia 2017-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720940 SCV000851824 benign History of neurodevelopmental disorder 2014-11-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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