ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare and "benign" from any submitter

Minimum review status of the submission from Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare: Collection method of the submission from Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare:
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_001081.4(CUBN):c.6225G>A (p.Ser2075=) rs75737363 0.00192
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) rs149253719 0.00078
NM_022489.4(INF2):c.2509C>T (p.Arg837Cys) rs201534539 0.00033
NM_012120.3(CD2AP):c.682C>T (p.Arg228Trp) rs150851309 0.00021
NM_022489.4(INF2):c.*1+1G>C rs758452999 0.00007

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