ClinVar Miner

Variants with conflicting interpretations between UCLA Clinical Genomics Center, UCLA and Labcorp Genetics (formerly Invitae), Labcorp

Minimum review status of the submission from UCLA Clinical Genomics Center, UCLA: Collection method of the submission from UCLA Clinical Genomics Center, UCLA:
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
52 9 0 13 0 0 6 19

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 1 0 0 1
likely pathogenic 12 0 2 1 2

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00024
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg) rs772871471 0.00002
NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro) rs751161742 0.00002
NM_004035.7(ACOX1):c.176G>C (p.Arg59Pro) rs777937235 0.00001
NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu) rs56160159 0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile) rs863224907
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp) rs863224861
NM_004006.3(DMD):c.4000G>T (p.Gly1334Ter) rs146880270
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile) rs767399782
NM_022455.5(NSD1):c.5304-1G>C rs863224905
NM_032638.5(GATA2):c.1113C>A (p.Asn371Lys) rs376003468
NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840

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