ClinVar Miner

Variants with conflicting interpretations between Gharavi Laboratory,Columbia University and Invitae

Minimum review status of the submission from Gharavi Laboratory,Columbia University: Collection method of the submission from Gharavi Laboratory,Columbia University:
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
153 25 0 16 4 0 18 38

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 likely pathogenic uncertain significance likely benign benign
pathogenic 0 6 3 0 1
likely pathogenic 9 0 9 0 0
uncertain significance 2 3 0 2 2
likely benign 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP
NM_000091.4(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620
NM_000091.4(COL4A3):c.1201G>A (p.Gly401Arg) rs1559878824
NM_000091.4(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.4(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249
NM_000091.4(COL4A3):c.190G>C (p.Gly64Arg) rs917643323
NM_000091.4(COL4A3):c.2810G>A (p.Gly937Glu) rs1559899600
NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000092.4(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471
NM_000092.4(COL4A4):c.2092G>A (p.Gly698Arg) rs1241404192
NM_000092.4(COL4A4):c.4082-1G>T rs1559438651
NM_000124.4(ERCC6):c.809del (p.Gly270fs) rs923535659
NM_000216.4(ANOS1):c.555G>C (p.Lys185Asn) rs140670828
NM_000255.4(MMUT):c.912-1G>A rs1561957527
NM_000441.2(SLC26A4):c.1708-1G>A rs759414956
NM_000478.6(ALPL):c.994G>T (p.Glu332Ter) rs768976020
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu) rs779160677
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg) rs752101663
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076
NM_001567.4(INPPL1):c.1893_1894delinsAA (p.Leu632Ile) rs1565392009
NM_004525.3(LRP2):c.6473A>C (p.Asn2158Thr) rs34052957
NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter) rs1007096305
NM_014625.3(NPHS2):c.451+2T>A rs786204708
NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) rs61747728
NM_018668.4(VPS33B):c.96+1G>T rs1567232168
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111
NM_033380.3(COL4A5):c.1607G>A (p.Gly536Asp) rs104886125
NM_033380.3(COL4A5):c.2510-2A>G rs760109866
NM_033380.3(COL4A5):c.2965_2982del (p.Asp989_Gly994del) rs104886374
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys) rs144282156
NM_033380.3(COL4A5):c.4567C>A (p.Pro1523Thr) rs201220208
NM_033380.3(COL4A5):c.546+2dup rs1569489353
NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu) rs104886074
NM_144696.6(AXDND1):c.3032-1887G>A rs780761368
NM_173689.7(CRB2):c.2400C>G (p.Asn800Lys) rs765676223

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