ClinVar Miner

Variants with conflicting interpretations between Athena Diagnostics Inc and Department of Pathology and Laboratory Medicine,Sinai Health System

Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
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
205 50 0 14 25 0 3 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.

pathogenic uncertain significance likely benign benign
pathogenic 0 2 0 0
likely pathogenic 1 0 0 0
uncertain significance 0 0 3 0
likely benign 0 10 0 1
benign 1 12 12 0

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.4138C>T (p.His1380Tyr) rs3092856
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) rs750077647
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544
NM_000478.6(ALPL):c.744C>T (p.Asp248=) rs188689330
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser) rs150710956
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
NM_001151.4(SLC25A4):c.490A>G (p.Ile164Val) rs143511445
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615
NM_003482.3(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414
NM_004977.3(KCNC3):c.1771A>G (p.Ser591Gly) rs549394447
NM_004980.4(KCND3):c.1573A>G (p.Met525Val) rs145890206
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys) rs114684479
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr) rs114015043
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val) rs139794766
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392
NM_005591.3(MRE11):c.1727G>A (p.Arg576Gln) rs139461096
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=) rs143511306
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) rs61747728
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924
NM_020956.2(PRX):c.*1779T>C rs149715830
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500
NM_024411.5(PDYN):c.268G>A (p.Gly90Arg) rs201585283
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461
NM_182914.2(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=) rs149536991
NM_198994.3(TGM6):c.115A>T (p.Ser39Cys) rs144201778
NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn) rs200814155
Single allele rs28359170

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