ClinVar Miner

Variants from Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology with conflicting interpretations

Location: India  Primary collection method: clinical testing
Minimum review status of the submission from Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology: Collection method of the submission from Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology:
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
394 28 0 5 7 0 9 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 0 0 0
likely pathogenic 3 0 5 0 0
uncertain significance 1 3 0 3 5

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 13 0 3 5 0 2 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 1 0 0 1 2
Baylor Genetics 0 1 0 1 0 0 0 1
GeneDx 0 1 0 0 0 0 1 1
Revvity Omics, Revvity Omics 0 4 0 0 0 0 1 1
Counsyl 0 0 0 0 0 0 1 1
Natera, Inc. 0 0 0 0 0 0 1 1
Illumina Laboratory Services, Illumina 0 0 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 0 1
Genome-Nilou Lab 0 2 0 0 1 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133 0.00349
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys) rs34390308 0.00170
NM_001365999.1(SZT2):c.9629G>A (p.Arg3210His) rs371193436 0.00004
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg) rs776384541 0.00002
NM_000284.4(PDHA1):c.522C>T (p.Gly174=) rs769308417 0.00001
NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu) rs56160159 0.00001
NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter) rs1591031929
NM_000231.3(SGCG):c.581T>G (p.Leu194Ter) rs547818652
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_001037.5(SCN1B):c.448+201C>T rs2151746638
NM_001080508.3(TBX18):c.1285C>T (p.Arg429Ter) rs886041719
NM_001364905.1(LRBA):c.2449C>T (p.Gln817Ter)
NM_002386.4(MC1R):c.840del (p.Phe280fs) rs2045705764
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe) rs1436441738
NM_017534.6(MYH2):c.4204C>T (p.Arg1402Trp)
NM_024996.7(GFM1):c.749G>A (p.Arg250Gln) rs752251570
NM_032485.6(MCM8):c.1033C>T (p.Arg345Ter) rs757546009
NM_170606.3(KMT2C):c.2961C>G (p.Tyr987Ter) rs58528565
NM_205768.3(ZBTB18):c.1307G>A (p.Arg436His) rs1572531765

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