ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories and "pathogenic" from Mayo Clinic Laboratories, Mayo Clinic

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: 13
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu) rs62625011 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000249.4(MLH1):c.1688_1689del (p.Ile563fs) rs863225376
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp) rs373916826
NM_000492.4(CFTR):c.929TCT[2] (p.Phe312del) rs121908768
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935

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