ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario and "uncertain significance" from any submitter

Minimum review status of the submission from CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario: Collection method of the submission from CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000258.3(MYL3):c.466G>A (p.Val156Met) rs199474707 0.00004
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832 0.00003
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn) rs730880923 0.00002
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=) rs753392652 0.00001
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_058216.3(RAD51C):c.571+4A>G rs587780257 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val) rs1566908083
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000257.4(MYH7):c.2821C>T (p.Arg941Cys) rs750435648
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000432.4(MYL2):c.431_432del (p.Pro144fs) rs1566147422
NM_000432.4(MYL2):c.92_93+1del rs751392310
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del) rs794728093
NM_002667.5(PLN):c.63_64dup (p.Gln22fs) rs794729138
NM_003242.6(TGFBR2):c.1525-1G>A rs1699706945
NM_005902.4(SMAD3):c.533-1G>A rs1350129614
NM_007294.4(BRCA1):c.53T>A (p.Met18Lys) rs80356929
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn) rs755849719

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.