ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.1371C>T (p.Val457=) (rs149695930)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000487772 SCV000232105 uncertain significance not provided 2014-07-03 criteria provided, single submitter clinical testing
Invitae RCV000487772 SCV000285672 benign not provided 2018-07-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287960 SCV000481921 likely benign Fanconi Anemia, X-Linked 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352217 SCV000481922 likely benign VACTERL association with hydrocephalus 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487772 SCV000575618 likely benign not provided 2017-01-01 criteria provided, single submitter clinical testing

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