ClinVar Miner

Variants in gene CDKN1C

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 6 174 167 25 1 394

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Beckwith-Wiedemann syndrome 30 4 166 122 21 0 342
not provided 2 2 9 37 1 0 51
not specified 0 0 0 9 10 0 16
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 8 0 0 0 0 0 8
Beckwith-Wiedemann syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 0 0 2 0 0 0 2
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies; Beckwith-Wiedemann syndrome due to CDKN1C mutation 0 0 0 0 1 0 1
Russell-Silver syndrome 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 15 3 165 158 22 0 362
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 7 2 7 0 18
OMIM 11 0 0 0 0 0 11
Centre de Recherche Saint Antoine, Université Pierre et Marie Curie 10 0 0 0 0 1 11
PreventionGenetics,PreventionGenetics 0 0 0 2 8 0 10
Genetic Services Laboratory, University of Chicago 1 0 0 5 1 0 7
GeneReviews 7 0 0 0 0 0 7
Gharavi Laboratory,Columbia University 0 1 2 0 0 0 3
GeneDx 0 1 0 1 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
Mendelics 0 0 0 1 0 0 1
ITMI 1 0 0 0 0 0 1
ISCA site 8 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 1 0 1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 1 0 0 0 0 1

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