ClinVar Miner

Variants with conflicting interpretations between Athena Diagnostics and Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

Minimum review status of the submission from Athena Diagnostics: Collection method of the submission from Athena Diagnostics:
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
0 84 0 25 7 0 0 32

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 uncertain significance likely benign benign
pathogenic 1 0 0 0
uncertain significance 0 0 1 0
likely benign 0 3 0 1
benign 0 3 23 0

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01611
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_001354604.2(MITF):c.880+9C>G rs181810413 0.00203
NM_001354604.2(MITF):c.366C>T (p.His122=) rs140663277 0.00201
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_000388.4(CASR):c.2730C>A (p.Pro910=) rs34200949 0.00194
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_021098.3(CACNA1H):c.6717C>T (p.Gly2239=) rs143733790 0.00186
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000051.4(ATM):c.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu) rs34916635 0.00041
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744 0.00037
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.7224G>A (p.Ser2408=) rs145747513 0.00016
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 0.00010
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812

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