ClinVar Miner

Variants with conflicting interpretations "likely benign" from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and "likely pathogenic" 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: 13
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HGVS dbSNP
NC_012920.1:m.15511T>C rs527236188
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000245.3(MET):c.2908C>T (p.Arg970Cys) rs34589476
NM_002310.5(LIFR):c.1937C>A (p.Thr646Asn) rs79040751
NM_003035.2(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_016579.3(CD320):c.262_264delGAG (p.Glu88del) rs150384171
NM_022041.3(GAN):c.1684C>G (p.Pro562Ala) rs79901179
NM_032119.3(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_152384.2(BBS5):c.551A>G (p.Asn184Ser) rs137853921
NM_152419.2(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032

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