ClinVar Miner

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

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 gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs) rs755184077
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp) rs558341655

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