ClinVar Miner

Variants in gene RINT1

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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 not provided total
40 16 634 344 19 2 999

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 0 0 453 240 12 0 705
not provided 33 14 390 200 17 2 647
Infantile liver failure syndrome 3 5 0 4 0 1 0 10
Inborn genetic diseases 0 0 9 0 0 0 9
RINT1-related condition 0 0 0 0 9 0 9
Hereditary breast ovarian cancer syndrome 0 1 5 0 0 0 6
not specified 0 0 1 0 3 0 4
RINT1-related disorder 3 0 0 0 0 0 3
Fulminant hepatic failure 2 0 0 0 0 0 2
Thyroid cancer, nonmedullary, 1 0 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 0 0 462 240 12 0 714
Invitae 33 14 383 197 17 0 644
CeGaT Center for Human Genetics Tuebingen 0 0 3 8 1 0 12
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 10 0 0 0 10
PreventionGenetics, part of Exact Sciences 0 0 0 0 9 0 9
Cancer Genomics Group, Japanese Foundation For Cancer Research 0 1 5 0 0 0 6
OMIM 5 0 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 1 1 0 4
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 3 0 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 2 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Working Group: Pediatric metabolic liver diseases, University Hospital Heidelberg 2 0 0 0 0 0 2
Dept. of Medical Genetics, The Key Laboratory of Geriatrics, Beijing Institute of Geriatrics, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital/National Center of Gerontology of National Health Commission 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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