ClinVar Miner

Variants from GeneID Lab - Advanced Molecular Diagnostics with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from GeneID Lab - Advanced Molecular Diagnostics: Collection method of the submission from GeneID Lab - Advanced Molecular Diagnostics:
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
20 10 0 11 2 2 3 17

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.

All submitters
GeneID Lab - Advanced Molecular Diagnostics pathogenic likely pathogenic uncertain significance likely benign benign affects established risk allele
pathogenic 0 0 0 0 0 1 0
likely pathogenic 11 0 2 1 0 0 1
uncertain significance 0 1 0 2 1 0 0

Submitter to submitter summary #

Total submitters: 13
Download table as spreadsheet
Submitter 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
Invitae 0 2 0 8 0 0 0 8
Ambry Genetics 0 1 0 1 2 1 1 5
Sema4, Sema4 0 0 0 0 2 0 1 3
Baylor Genetics 0 3 0 2 0 0 0 2
Natera, Inc. 0 2 0 1 0 0 1 2
Genome-Nilou Lab 0 3 0 2 0 0 0 2
OMIM 0 0 0 0 0 1 0 1
Counsyl 0 1 0 0 0 0 1 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 1 0 0 0 1
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 1 0 0 1 0 0 1
Color Diagnostics, LLC DBA Color Health 0 1 0 0 0 0 1 1
ClinGen PAH Variant Curation Expert Panel 0 0 0 1 0 0 0 1
Myriad Genetics, Inc. 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_001048174.2(MUTYH):c.563G>A (p.Gly188Glu) rs768553551 0.00001
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter) rs1337679118 0.00001
NM_000057.4(BLM):c.2851_2857del (p.Met951fs) rs1309932713
NM_000157.4(GBA1):c.203dup (p.Thr69fs) rs1170895261
NM_000277.3(PAH):c.618C>G (p.Tyr206Ter) rs62517201
NM_000520.6(HEXA):c.1098T>G (p.Tyr366Ter) rs979690054
NM_000520.6(HEXA):c.929_930del (p.Ser310fs) rs751248523
NM_004260.4(RECQL4):c.2889del (p.Pro965fs) rs1586795973
NM_004260.4(RECQL4):c.3340C>T (p.Gln1114Ter) rs868635592
NM_004360.5(CDH1):c.656del (p.Pro219fs) rs1555515284
NM_024675.4(PALB2):c.2585del (p.Lys862fs) rs752513498
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_183050.4(BCKDHB):c.329_330delinsAA (p.Leu110Ter) rs2127727924
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter) rs1772735425

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