ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Pathway Genomics and "pathogenic" from any submitter

Minimum review status of the submission from Pathway Genomics: Collection method of the submission from Pathway Genomics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter) rs587782885 0.00002
NM_000314.8(PTEN):c.968dup (p.Asn323fs) rs121913291
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_007294.4(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.4987-1G>A rs730881495

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