ClinVar Miner

Variants in gene combination CYP19A1, MIR4713HG, PIRC66

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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 association drug response total
52 24 110 296 52 1 2 499

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association drug response total
not provided 42 10 25 287 43 0 0 403
Aromatase deficiency 14 4 76 14 26 0 0 128
Aromatase excess syndrome; Aromatase deficiency 1 11 1 0 0 0 0 13
not specified 0 0 5 0 7 0 0 12
Inborn genetic diseases 0 0 9 0 0 0 0 9
CYP19A1-related disorder 0 0 0 4 0 0 0 4
Aromatase excess syndrome 0 1 0 0 2 0 0 3
Letrozole response 0 0 0 0 0 0 2 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 0 0 1 0 0 0 0 1
Premature ovarian failure 0 1 0 0 0 0 0 1
Pulmonary disease, chronic obstructive, susceptibility to 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association drug response total
Labcorp Genetics (formerly Invitae), Labcorp 41 7 14 279 19 0 0 360
Illumina Laboratory Services, Illumina 0 0 52 7 22 0 0 81
GeneDx 3 2 8 8 27 0 0 48
Natera, Inc. 2 2 21 8 10 0 0 43
Breakthrough Genomics, Breakthrough Genomics 0 0 3 3 23 0 0 29
Fulgent Genetics, Fulgent Genetics 1 11 1 0 0 0 0 13
OMIM 10 0 0 0 0 0 0 10
Ambry Genetics 0 0 9 0 0 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 4 0 0 0 0 5
CeGaT Center for Human Genetics Tuebingen 0 1 1 3 0 0 0 5
PreventionGenetics, part of Exact Sciences 0 0 0 4 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 3 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 0 2
3billion 1 1 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 0 2
Department of Medical Oncology, IRCCS Ospedale Policlinico San Martino 0 0 0 0 0 0 2 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 0 1
Mendelics 0 0 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 0 1 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 1 0 0 0 0 0 1
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 0 1 0 1
Molecular Endocrinology Laboratory, Christian Medical College 0 0 1 0 0 0 0 1

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