ClinVar Miner

Variants with conflicting interpretations between Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and Color

Minimum review status of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics:
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 Variants with at least 2 submissions 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 kind of conflict
0 46 0 35 5 0 1 41

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.

likely pathogenic likely benign benign
uncertain significance 1 3 2
likely benign 0 0 35

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.6995T>C (p.Leu2332Pro) rs4988111
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.3(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000179.2(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000335.4(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu) rs1042023
NM_000384.3(APOB):c.606A>T (p.Glu202Asp) rs61746672
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr) rs72653092
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415
NM_001128425.1(MUTYH):c.312C>T (p.Tyr104=) rs121908380
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776
NM_002485.4(NBN):c.1882G>A (p.Glu628Lys) rs115321485
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007299.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_024675.3(PALB2):c.2794G>A (p.Val932Met) rs45624036
NM_032043.2(BRIP1):c.1433A>G (p.His478Arg) rs45501097
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_181798.1(KCNQ1):c.962C>G (p.Pro321Arg) rs12720449

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