ClinVar Miner

Variants from National Institute on Deafness and Communication Disorders, National Institutes of Health with conflicting interpretations

Location: United States  Primary collection method: research
Minimum review status of the submission from National Institute on Deafness and Communication Disorders, National Institutes of Health: Collection method of the submission from National Institute on Deafness and Communication Disorders, National Institutes of Health:
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
57 19 0 5 11 0 4 20

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
National Institute on Deafness and Communication Disorders, National Institutes of Health pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 1 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 0 2 0 9 5

Submitter to submitter summary #

Total submitters: 15
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 14 0 1 10 0 0 11
GeneDx 0 11 0 0 4 0 3 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 0 5 0 1 6
Eurofins Ntd Llc (ga) 0 3 0 0 3 0 1 4
PreventionGenetics, part of Exact Sciences 0 1 0 1 2 0 0 3
CeGaT Center for Human Genetics Tuebingen 0 1 0 0 3 0 0 3
Athena Diagnostics Inc 0 1 0 0 1 0 0 1
Counsyl 0 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 3 0 0 1 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 1 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 1 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 0 1 0 0 1
Genome-Nilou Lab 0 1 0 1 0 0 0 1
3billion 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser) rs114460450 0.00342
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys) rs138861831 0.00280
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574 0.00237
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp) rs140895792 0.00108
NM_194248.3(OTOF):c.3917A>C (p.Lys1306Thr) rs62641623 0.00103
NM_016239.4(MYO15A):c.3196G>C (p.Ala1066Pro) rs199537186 0.00073
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp) rs148033154 0.00067
NM_022124.6(CDH23):c.5505G>A (p.Met1835Ile) rs200786014 0.00053
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_016239.4(MYO15A):c.6302T>C (p.Leu2101Pro) rs201908493 0.00008
NM_001199799.2(ILDR1):c.775C>T (p.Arg259Ter) rs920852517 0.00007
NM_001854.4(COL11A1):c.1031C>T (p.Thr344Met) rs544289862 0.00002
NM_130837.3(OPA1):c.2959C>T (p.Arg987Cys) rs145710079 0.00002
NM_016239.4(MYO15A):c.4216G>A (p.Glu1406Lys) rs759810756 0.00001
NM_016239.4(MYO15A):c.7006C>T (p.Gln2336Ter) rs1169954783 0.00001
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter) rs779445819
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter) rs376155416
NM_206933.4(USH2A):c.2168-2A>G rs993185407

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