ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from GeneDx and "benign" from any submitter

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_004793.4(LONP1):c.1612C>T (p.Arg538Cys) rs201664019 0.00017
NM_001136193.2(FASTKD2):c.911T>C (p.Ile304Thr) rs144499152 0.00012
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265 0.00009
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000444.6(PHEX):c.2237G>T (p.Cys746Phe) rs1057517799
NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu) rs35263902
NM_130837.3(OPA1):c.1935+3A>G rs398124300
Single allele

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