ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and "likely benign" from any submitter

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_000155.3(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_001083116.1(PRF1):c.272C>T (p.Ala91Val) rs35947132

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