ClinVar Miner

Variants with conflicting interpretations "pathogenic" from King Laboratory, University of Washington and "benign" from any submitter

Minimum review status of the submission from King Laboratory, University of Washington: Collection method of the submission from King Laboratory, University of Washington:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=) rs80359800 0.00001
NM_000314.8(PTEN):c.210-7_210-3del rs587780544

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