ClinVar Miner

Variants with conflicting interpretations "likely benign" from Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research and "uncertain significance" from any submitter

Minimum review status of the submission from Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research: Collection method of the submission from Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg) rs117358479 0.00165
NM_177438.3(DICER1):c.4616C>T (p.Thr1539Met) rs747901058 0.00013
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_177438.3(DICER1):c.4740G>T (p.Gln1580His) rs369465519 0.00003
NM_000059.4(BRCA2):c.7021C>T (p.Arg2341Cys) rs41293505 0.00002
NM_177438.3(DICER1):c.184G>A (p.Val62Ile) rs746671039 0.00002
NM_177438.3(DICER1):c.3334A>G (p.Asn1112Asp) rs587778229 0.00002
NM_177438.3(DICER1):c.4199A>G (p.Asp1400Gly) rs139536688 0.00002
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711 0.00001
NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys) rs80356942 0.00001
NM_000059.4(BRCA2):c.8084C>T (p.Ser2695Leu) rs80359048
NM_007294.4(BRCA1):c.1441C>G (p.Leu481Val) rs1397842308
NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala) rs16941
NM_007294.4(BRCA1):c.3179A>C (p.Glu1060Ala) rs80357184
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His) rs1265352633
NM_177438.3(DICER1):c.2040+54dup rs141723381
NM_177438.3(DICER1):c.4806C>T (p.Ala1602=) rs1890302137

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