ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from GeneDx and "pathogenic" from Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
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_024675.4(PALB2):c.3113+5G>C rs876659463 0.00001
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000059.4(BRCA2):c.8754+3G>C rs397508007
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr) rs80357150

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