ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and "likely benign" 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: 5
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HGVS dbSNP
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000540.2(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_007299.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530

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