ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Division of Human Genetics,Medical University Innsbruck and "likely pathogenic" from any submitter

Minimum review status of the submission from Division of Human Genetics,Medical University Innsbruck: Collection method of the submission from Division of Human Genetics,Medical University Innsbruck:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP
NM_000059.3(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000267.3(NF1):c.6642-17G>A rs1064795966
NM_007294.4(BRCA1):c.3752_3755GTCT[1] (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260

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