ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Pathway Genomics and "likely 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: 11
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs) rs398122783 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_004360.5(CDH1):c.1137G>A (p.Thr379=) rs587783050

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