ClinVar Miner

Variants with conflicting interpretations "likely benign" from Quest Diagnostics Nichols Institute San Juan Capistrano and "pathogenic" from any submitter

Minimum review status of the submission from Quest Diagnostics Nichols Institute San Juan Capistrano: Collection method of the submission from Quest Diagnostics Nichols Institute San Juan Capistrano:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001

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