ClinVar Miner

Variants with conflicting interpretations "likely benign" from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics and "uncertain significance" from Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg) rs56314834 0.00406
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_005450.6(NOG):c.275G>A (p.Gly92Glu) rs199566527 0.00175
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523 0.00097
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00054
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.