ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories and "risk factor" from any submitter

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940

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