ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital and "pathogenic" from any submitter

Minimum review status of the submission from Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital: Collection method of the submission from Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1
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HGVS dbSNP gnomAD frequency
NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg) rs764220898 0.00001

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