ClinVar Miner

Variants with conflicting interpretations "pathogenic" from UW Hindbrain Malformation Research Program,University of Washington and "uncertain significance" from Broad Institute Rare Disease Group, Broad Institute

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: 2
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser) rs780882740

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