Variants in gene CCNQ - ClinVar Miner

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
6	3	15	15	25	60

Condition and significance breakdown #

Total conditions: 6

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not provided	2	1	9	12	25	45
not specified	0	0	6	1	0	7
Syndactyly-telecanthus-anogenital and renal malformations syndrome	4	1	0	0	0	5
CCNQ-related disorder	0	0	0	2	0	2
Decreased total neutrophil count; Decreased total lymphocyte count	0	0	0	1	0	1
See cases	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	1	0	7	8	17	33
GeneDx	0	1	1	1	8	11
Breakthrough Genomics, Breakthrough Genomics	0	0	0	1	8	9
Ambry Genetics	0	0	6	0	0	6
OMIM	4	0	0	0	0	4
CeGaT Center for Human Genetics Tuebingen	1	0	1	2	0	4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	3	0	3
PreventionGenetics, part of Exact Sciences	0	0	0	2	0	2
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	2	0	2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	0	0	2	0	2
ISCA Site 6	0	1	0	0	0	1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	0	0	1	0	1
Daryl Scott Lab, Baylor College of Medicine	0	1	0	0	0	1
Department of Biosciences, University of Milan	0	0	0	1	0	1

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