ClinVar Miner

Variants from Phosphorus, Inc. with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Phosphorus, Inc.: Collection method of the submission from Phosphorus, 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
52 37 0 11 19 1 2 32

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
Phosphorus, Inc. pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 0 2 0 0 0 0
likely pathogenic 2 0 1 0 0 0
uncertain significance 1 1 0 10 8 0
likely benign 0 0 0 0 3 0
benign 0 0 3 4 0 1

Submitter to submitter summary #

Total submitters: 17
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 13 0 3 10 1 0 14
Illumina Clinical Services Laboratory,Illumina 0 24 0 6 6 0 1 13
OMIM 0 4 0 1 3 0 0 4
Natera, Inc. 0 14 0 1 2 0 0 3
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 2 0 2 0 0 1 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 2 0 2 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 3 0 1 1 0 0 2
LDLR-LOVD, British Heart Foundation 0 0 0 0 1 0 0 1
Laboratory of Human Genetics,Universidade de São Paulo 0 0 0 0 0 0 1 1
Color Health, Inc 0 0 0 0 1 0 0 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 0 0 0 0 0 1 1
Robarts Research Institute,Western University 0 0 0 0 1 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 0 0 0 1 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 0 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 10 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 1 0 0 1
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000258.3(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000267.3(NF1):c.7847G>A (p.Arg2616Gln) rs560262404
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000642.3(AGL):c.3758G>A (p.Arg1253His) rs12043139
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775
NM_001037.5(SCN1B):c.448+193G>A rs66876876
NM_001148.6(ANK2):c.2377-8C>T rs139893914
NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val) rs758458467
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) rs200165636
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438
NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe) rs772882862
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425
NM_002471.4(MYH6):c.2928+5G>A rs28730772
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val) rs41305353
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp) rs1800278
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509
NM_005691.3(ABCC9):c.2093-7T>C rs185235724
NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser) rs201503021
NM_013266.4(CTNNA3):c.1900G>A (p.Glu634Lys) rs77165728
NM_015120.4(ALMS1):c.4332G>T (p.Leu1444Phe) rs192499639
NM_015627.3(LDLRAP1):c.712C>T (p.Arg238Trp) rs41291058
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776
NM_024422.6(DSC2):c.1521-7C>T rs374810953

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