ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Athena Diagnostics Inc and "likely pathogenic" from Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research

Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
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 gnomAD frequency
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940

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