ClinVar Miner

Variants from Genetics Research Center, University of Social Welfare and Rehabilitation Sciences with conflicting interpretations

Location: Iran  Primary collection method: research
Minimum review status of the submission from Genetics Research Center, University of Social Welfare and Rehabilitation Sciences: Collection method of the submission from Genetics Research Center, University of Social Welfare and Rehabilitation Sciences:
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
70 35 0 26 0 9 8 39

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
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences pathogenic likely pathogenic uncertain significance affects
pathogenic 0 13 2 9
likely pathogenic 13 0 4 0
uncertain significance 0 2 0 0

Submitter to submitter summary #

Total submitters: 24
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
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 0 0 0 0 0 9 0 9
OMIM 0 12 0 8 0 0 0 8
Genome-Nilou Lab 0 6 0 3 0 0 2 5
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 2 0 4 0 0 0 4
King Laboratory, University of Washington 0 11 0 2 0 0 1 3
Baylor Genetics 0 17 0 2 0 0 0 2
Counsyl 0 2 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 0 1 0 0 1 2
3billion 0 9 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 0 0 0 0 0 1 1
Fulgent Genetics, Fulgent Genetics 0 3 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 6 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 0 0 1 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 0 4 0 1 0 0 0 1
Institute of Human Genetics, University of Ulm 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
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 0 0 0 0 0 0 1 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 0 3 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 4 0 1 0 0 0 1
Revvity Omics, Revvity 0 2 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 3 0 1 0 0 0 1
Variantyx, Inc. 0 1 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 5 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr) rs145369252 0.00068
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00006
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00005
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256 0.00005
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln) rs368053088 0.00004
NM_194248.3(OTOF):c.5566C>T (p.Arg1856Trp) rs368155547 0.00004
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363 0.00003
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) rs111033233 0.00002
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448 0.00002
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln) rs760980785 0.00002
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405 0.00002
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys) rs201529124 0.00002
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met) rs111033174 0.00001
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855 0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) rs1060499808 0.00001
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile) rs1481765326 0.00001
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg) rs753034799 0.00001
NM_001384474.1(LOXHD1):c.4940C>A (p.Ala1647Asp) rs1459136471 0.00001
NM_002906.4(RDX):c.698+1G>A rs1191259480 0.00001
NM_182548.4(LHFPL5):c.380A>G (p.Tyr127Cys) rs104893975 0.00001
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1574C>T (p.Pro525Leu) rs765197819
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_001039213.4(CEACAM16):c.37G>T (p.Ala13Ser) rs1198256157
NM_001127453.2(GSDME):c.1102C>G (p.Gln368Glu) rs2128047712
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg) rs148695069
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg) rs1554835827
NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly) rs148737918
NM_016239.4(MYO15A):c.7966+1G>A
NM_016239.4(MYO15A):c.8467G>A (p.Asp2823Asn) rs878853238
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_182548.4(LHFPL5):c.1A>G (p.Met1Val) rs1060499810
NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr) rs863223341
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val) rs772624410

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