ClinVar Miner

Variants in gene SEMA4A

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
4 5 415 228 37 630

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 3 342 209 21 562
Cone-rod dystrophy 10 2 0 68 10 8 84
not specified 0 0 54 7 6 67
Retinitis pigmentosa 1 0 32 13 14 60
Retinal dystrophy 0 2 26 2 13 42
Retinitis pigmentosa 35 2 0 31 8 2 42
Retinitis Pigmentosa, Recessive 0 0 30 5 1 36
Cone-rod dystrophy 10; Retinitis pigmentosa 35 0 0 5 0 2 7
SEMA4A-related disorder 0 0 0 6 0 6
Optic atrophy 0 0 3 0 0 3
Colorectal cancer 0 0 2 0 0 2
Cone-Rod Dystrophy, Recessive 0 0 2 0 0 2
Helicoid peripapillary chorioretinal degeneration 1 0 0 0 0 1
Polyp of colon 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 327 200 16 543
Illumina Laboratory Services, Illumina 0 0 52 21 16 61
Ambry Genetics 0 0 54 4 0 58
Genome-Nilou Lab 0 0 28 8 2 38
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 0 22 1 0 23
Dept Of Ophthalmology, Nagoya University 0 1 4 1 13 19
CeGaT Center for Human Genetics Tuebingen 0 1 12 3 1 17
GeneDx 0 2 3 2 9 16
Breakthrough Genomics, Breakthrough Genomics 0 0 5 7 4 16
Eurofins Ntd Llc (ga) 0 0 11 0 4 15
PreventionGenetics, part of Exact Sciences 0 0 0 8 2 10
Blueprint Genetics 0 1 3 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 1 4
OMIM 2 0 1 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 2 0 1 3
CSER _CC_NCGL, University of Washington 0 0 3 0 0 3
Molecular Genetics Laboratory, Institute for Ophthalmic Research 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 1 2
Clinical Genetics, Academic Medical Center 0 0 0 0 2 2
Baylor Genetics 0 0 1 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 1 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Pangenia Genomics, Pangenia Inc. 0 0 1 0 0 1

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