ClinVar Miner

Variants with conflicting interpretations "pathogenic" from UW Hindbrain Malformation Research Program, University of Washington and "uncertain significance" from Illumina Laboratory Services, Illumina

Minimum review status of the submission from UW Hindbrain Malformation Research Program, University of Washington: Collection method of the submission from UW Hindbrain Malformation Research Program, University of Washington:
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_001378615.1(CC2D2A):c.3596T>C (p.Ile1199Thr) rs760918829 0.00002

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