ClinVar Miner

Variants with conflicting interpretations between ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories and 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:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
82 73 0 22 3 1 0 26

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

uncertain significance likely benign benign other
uncertain significance 0 1 0 0
likely benign 2 0 3 0
benign 0 19 0 1

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
NM_000138.4(FBN1):c.6987C>G (p.Asp2329Glu) rs363831
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
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_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948
NM_000891.2(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) rs139512154
NM_001354689.3(RAF1):c.983C>T (p.Pro328Leu) rs5746220
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
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.4455G>T (p.Arg1485Ser) rs113902911
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu) rs114435632
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380

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