ClinVar Miner

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

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 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 52 0 12 3 0 6 21

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
pathogenic 0 8 1 0
likely pathogenic 4 0 1 1
uncertain significance 2 0 0 1
likely benign 1 0 2 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.8488-1G>A rs397507404
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000339.3(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg) rs1064794291
NM_000495.5(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376
NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) rs143999854
NM_003000.2(SDHB):c.136C>T (p.Arg46Ter) rs74315370
NM_004572.3(PKP2):c.1440_1444del (p.Asn480fs) rs775995156
NM_004572.3(PKP2):c.837_838del (p.Val280fs) rs772220644
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253
NM_170784.2(MKKS):c.830T>C (p.Leu277Pro) rs74315398
NM_173689.7(CRB2):c.2400C>G (p.Asn800Lys) rs765676223
NM_181798.1(KCNQ1):c.884del (p.Lys295fs) rs397508083

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