ClinVar Miner

Variants with conflicting interpretations "benign" from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories and "likely benign" from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories:
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
NM_000138.4(FBN1):c.6987C>G (p.Asp2329Glu) rs363831
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) rs139512154
NM_001354689.3(RAF1):c.983C>T (p.Pro328Leu) rs5746220
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550
NM_004006.2(DMD):c.1554T>A (p.Asp518Glu) rs61733587
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380

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.