ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.402A>G (p.Leu134=) (rs147260208)

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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 RCV000373701 SCV000481943 likely benign Fanconi Anemia, X-Linked 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279173 SCV000481944 likely benign VACTERL association with hydrocephalus 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000470748 SCV000558851 benign not provided 2019-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000721057 SCV000851942 benign History of neurodevelopmental disorder 2014-05-16 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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