ClinVar Miner

Variants in gene RTTN

Minimum submission review status: Collection method:
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Gene type:
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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
11 11 61 69 36 2 151

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 21 68 36 0 99
not provided 2 7 39 4 0 2 53
Microcephaly, short stature, and polymicrogyria with or without seizures 6 0 2 0 0 0 8
Congenital microcephaly 0 4 0 0 0 0 4
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES 3 0 0 0 0 0 3
Disease Association NOS 0 0 0 0 1 0 1
Neurodevelopmental disorder 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 1 4 14 41 33 0 93
Genetic Services Laboratory, University of Chicago 1 0 24 33 1 0 59
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 15 2 2 0 20
OMIM 7 0 0 0 0 0 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 7 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 5 0 0 0 6
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 4 0 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 4 0 0 4
Gharavi Laboratory,Columbia University 0 0 3 0 0 0 3
Baylor Miraca Genetics Laboratories, 0 0 2 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 2 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 1 1 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 0 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 1 0 1
Research Group Niklas Dahl,Uppsala University 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 1 0 0 0 1

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