ClinVar Miner

Variants from MVZ Medizinische Genetik Mainz with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from MVZ Medizinische Genetik Mainz: Collection method of the submission from MVZ Medizinische Genetik Mainz:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
2098 68 0 14 0 0 19 33

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
MVZ Medizinische Genetik Mainz pathogenic likely pathogenic uncertain significance
pathogenic 0 6 1
likely pathogenic 8 0 8
uncertain significance 1 9 0

Submitter to submitter summary #

Total submitters: 21
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
Fulgent Genetics, Fulgent Genetics 0 21 0 2 0 0 2 4
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 1 0 0 2 3
MVZ Martinsried, Medicover Genetics 0 3 0 1 0 0 2 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 6 0 2 0 0 1 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 0 0 0 0 2 2
Department of Nephrology, Rheumatology and Immunology, Shanghai Children's Hospital 0 0 0 0 0 0 2 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 2 0 0 0 2
Baylor Genetics 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 0 0 0 0 1 1
Department of Clinical Genetics, Aarhus University Hospital 0 0 0 0 0 0 1 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1 1
Institute of Human Genetics Munich, TUM University Hospital 0 0 0 0 0 0 1 1
Institute of Rare Diseases, West China Hospital, Sichuan University 0 1 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 1 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 0 0 0 0 1 1
Labcorp Genetics (formerly Invitae), Labcorp 0 6 0 1 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 0 0 1 0 0 0 1
Laboratory of Otorhinolaryngology, Head and Neck Surgery, Inje University Ilsan Paik Hospital 0 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 0 0 1 1
Molecular Physiology Group, Radboudumc 0 0 0 1 0 0 0 1
Variantyx, Inc. 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000186.4(CFH):c.1690T>C (p.Cys564Arg) rs1668856710 0.00001
NM_003041.4(SLC5A2):c.484G>A (p.Gly162Arg) rs767198666 0.00001
NM_000091.5(COL4A3):c.2864G>A (p.Gly955Glu) rs2106175500
NM_000091.5(COL4A3):c.4199G>A (p.Gly1400Glu)
NM_000297.4(PKD2):c.2814del (p.Gln938fs) rs2476011907
NM_000368.5(TSC1):c.2527C>T (p.Gln843Ter)
NM_001005273.3(CHD3):c.2404C>T (p.Arg802Trp)
NM_001009944.3(PKD1):c.11412-1G>C rs2544621386
NM_001009944.3(PKD1):c.11412-7_11468del rs2544620556
NM_001009944.3(PKD1):c.11546C>A (p.Ala3849Asp)
NM_001080512.3(BICC1):c.1204C>T (p.Arg402Ter) rs2493810553
NM_001126108.2(SLC12A3):c.1015A>C (p.Thr339Pro)
NM_001130438.3(SPTAN1):c.3014G>A (p.Trp1005Ter) rs2131317641
NM_001347721.2(DYRK1A):c.764A>C (p.Lys255Thr) rs2518028103
NM_001370259.2(MEN1):c.773A>C (p.Gln258Pro)
NM_001378609.3(OTOGL):c.6787C>T (p.Arg2263Ter)
NM_001386298.1(CIC):c.2363del (p.Pro788fs) rs2513612309
NM_002524.5(NRAS):c.203G>T (p.Arg68Ile)
NM_002585.4(PBX1):c.388del (p.Ala130fs)
NM_003361.4(UMOD):c.610C>T (p.Arg204Cys) rs1567310019
NM_006565.4(CTCF):c.1573T>G (p.Cys525Gly)
NM_014712.3(SETD1A):c.4711C>T (p.Arg1571Ter)
NM_016529.6(ATP8A2):c.1268A>T (p.Lys423Ile)
NM_020632.3(ATP6V0A4):c.977G>A (p.Trp326Ter)
NM_021244.5(RRAGD):c.299T>G (p.Ile100Arg) rs2533173218
NM_030662.4(MAP2K2):c.404G>T (p.Gly135Val) rs2041140884
NM_033380.3(COL4A5):c.2446C>T (p.Pro816Ser) rs2524375503
NM_033380.3(COL4A5):c.4543T>C (p.Cys1515Arg)
NM_033380.3(COL4A5):c.4912T>C (p.Cys1638Arg) rs281874750
NM_138694.4(PKHD1):c.1139T>C (p.Phe380Ser)
NM_138694.4(PKHD1):c.1284G>A (p.Trp428Ter) rs2533373615
NM_170606.3(KMT2C):c.14068C>T (p.Arg4690Ter) rs749571160
NM_176824.3(BBS7):c.529-2A>G

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