ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from PreventionGenetics, part of Exact Sciences and "benign" from any submitter

Minimum review status of the submission from PreventionGenetics, part of Exact Sciences: Collection method of the submission from PreventionGenetics, part of Exact Sciences:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.*6C>G rs12079762 0.04454
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171

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