Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions
The clinical classification of variants may change with new information, however, there is limited guidance on how often significant changes in variant classification occur. We used ClinVar to examine how variant classification changes over time. We developed a custom parser and accessed variant dat...
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| Published in: | Human mutation Vol. 43; no. 12; pp. 2054 - 2062 |
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| Main Authors: | , , , , , , , , , |
| Format: | Journal Article |
| Language: | English |
| Published: |
United States
John Wiley & Sons, Inc
01.12.2022
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| Subjects: | |
| ISSN: | 1059-7794, 1098-1004, 1098-1004 |
| Online Access: | Get full text |
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