ClinVar Miner

Variants in gene STAR

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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
58 59 121 199 24 410

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 55 11 23 193 21 297
Congenital lipoid adrenal hyperplasia due to STAR deficency 25 53 91 13 4 168
STAR-related disorder 1 2 2 10 0 15
Inborn genetic diseases 0 0 13 1 0 14
not specified 0 0 4 4 1 9
Congenital adrenal hyperplasia 0 0 3 0 1 4
Syndactyly-telecanthus-anogenital and renal malformations syndrome 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 52 10 17 184 16 279
Fulgent Genetics, Fulgent Genetics 12 20 36 7 0 75
Illumina Laboratory Services, Illumina 1 0 49 1 4 55
Counsyl 3 20 5 0 0 28
Natera, Inc. 9 3 7 5 1 25
GeneDx 4 0 3 7 6 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 5 4 1 1 18
Myriad Genetics, Inc. 1 15 0 0 0 16
PreventionGenetics, part of Exact Sciences 1 2 2 10 0 15
OMIM 14 0 0 0 0 14
Ambry Genetics 0 0 13 1 0 14
Breakthrough Genomics, Breakthrough Genomics 0 0 2 5 4 11
Athena Diagnostics 3 1 0 0 2 6
Revvity Omics, Revvity 3 2 1 0 0 6
CeGaT Center for Human Genetics Tuebingen 1 0 0 3 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 2 0 0 4
Genome-Nilou Lab 0 0 2 0 2 4
Neuberg Centre For Genomic Medicine, NCGM 2 1 1 0 0 4
3billion 3 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Pars Genome Lab 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 1
Institute Of Endocrinology, Diabetes, Thyroid & Osteoporosis Disorders, Sakra World Hospital, Unit Of Thakshasila Hospital Operating Private Limited 0 0 1 0 0 1

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