ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "uncertain significance" from Genetic Services Laboratory,University of Chicago

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
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 gnomAD frequency
NM_203290.4(POLR1C):c.193A>G (p.Met65Val) rs141471029 0.00100
NM_001165963.4(SCN1A):c.5336A>G (p.Asn1779Ser) rs797045940

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