ClinVar Miner

Variants with conflicting interpretations "likely benign" from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute and "benign" from Biesecker Lab/Clinical Genomics Section, National Institutes of Health

Minimum review status of the submission from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute: Collection method of the submission from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg) rs34956633 0.01509
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val) rs11924644 0.00629
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn) rs142027794 0.00415
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr) rs61756328 0.00239
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948 0.00184
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664 0.00128
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln) rs35434411

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.