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 total
5 0 239 87 15 341

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic uncertain significance likely benign benign total
not provided 0 234 86 13 331
not specified 0 10 1 3 14
Infantile liver failure syndrome 3 5 2 0 0 7
Hereditary breast and ovarian cancer syndrome 0 5 0 1 6
Cowden syndrome 0 2 0 0 2
Fulminant hepatic failure 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic uncertain significance likely benign benign total
Invitae 0 232 87 13 332
Cancer Genomics Group,Japanese Foundation For Cancer Research 0 5 0 1 6
OMIM 5 0 0 0 5
Department of Pathology and Laboratory Medicine,Sinai Health System 0 2 1 1 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 2 2
Mayo Clinic Laboratories, Mayo Clinic 0 2 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 0 2
Working Group: Pediatric metabolic liver diseases,University Hospital Heidelberg 2 0 0 0 2
Baylor Genetics 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 1

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