ClinVar Miner

Variants with conflicting interpretations "likely benign" from Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine and "pathogenic" from any submitter

Minimum review status of the submission from Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine: Collection method of the submission from Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) rs121908108 0.00202
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233 0.00040
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) rs111033240 0.00002
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066

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.