ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.2016A>G (p.Pro672=) (rs1061302)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162357 SCV000212660 benign Hereditary cancer-predisposing syndrome 2014-11-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000243757 SCV000309100 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393183 SCV000475288 benign Microcephaly, normal intelligence and immunodeficiency 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000162357 SCV000537332 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000243757 SCV000539863 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Invitae RCV000393183 SCV000634266 benign Microcephaly, normal intelligence and immunodeficiency 2017-07-10 criteria provided, single submitter clinical testing

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