ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Athena Diagnostics Inc and "likely pathogenic" from Mayo Clinic Laboratories, Mayo Clinic

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: 4
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro) rs1228791562
NM_014874.4(MFN2):c.239G>T (p.Gly80Val) rs139827903
Single allele

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