ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics and "likely pathogenic" 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: 9
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HGVS dbSNP gnomAD frequency
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile) rs267607134 0.00014
NM_198076.6(COX20):c.92G>A (p.Arg31Gln) rs764620077 0.00007
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910 0.00001
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) rs752742151 0.00001
NM_001040716.2(PC):c.1185+5_1185+8del rs748620956
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655

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