ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and "likely benign" from Counsyl

Minimum review status of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778

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