ClinVar Miner

Submissions for variant NM_000505.3(F12):c.-4T>C (rs1801020)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000293630 SCV000456740 benign Factor XII deficiency disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346234 SCV000456741 benign Hereditary Angioedema 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000242780 SCV000539125 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
OMIM RCV000001226 SCV000021376 benign FACTOR XII POLYMORPHISM 2010-04-09 no assertion criteria provided literature only
PreventionGenetics RCV000242780 SCV000304580 benign not specified criteria provided, single submitter clinical testing

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