ClinVar Miner

Variants with conflicting interpretations "likely 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: 9
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter) rs756339822 0.00023
NM_001130144.3(LTBP3):c.1550C>T (p.Pro517Leu) rs145001056 0.00010
NM_016648.4(LARP7):c.552+1G>T rs200544616 0.00001
NM_001040616.3(LINS1):c.431del (p.Leu144fs) rs764442764
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_001346754.2(PIGW):c.617_620del (p.Val206fs) rs753385776
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg) rs28999969

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