ClinVar Miner

Variants with conflicting interpretations between Color Health, Inc and Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum review status of the submission from Color Health, Inc: Collection method of the submission from Color Health, 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
6271 72 0 15 3 0 10 28

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
pathogenic 0 1 0
likely pathogenic 14 0 0
uncertain significance 1 8 0
likely benign 0 1 2
benign 0 0 3

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile) rs1060505018
NM_000527.4(LDLR):c.1381G>A (p.Gly461Ser) rs193922568
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg) rs748554592
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.190+4A>T rs769446356
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) rs193922626
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys) rs193922708
NM_174936.3(PCSK9):c.286C>T (p.Arg96Cys) rs185392267
NM_198056.2(SCN5A):c.689T>C (p.Ile230Thr) rs199473073

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