ClinVar Miner

Variants with conflicting interpretations "likely benign" from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and "uncertain significance" from CSER_CC_NCGL; University of Washington Medical Center

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: 4
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HGVS dbSNP
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000222.2(KIT):c.532G>A (p.Ala178Thr) rs115585711
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423

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