Variants in gene FRYL - 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
16	3	224	14	9	255

Condition and significance breakdown #

Total conditions: 7

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not specified	3	0	163	5	0	171
not provided	5	2	48	8	9	72
FRYL-related developmental disorder	0	0	14	0	0	14
Pan-Chung-Bellen syndrome	8	0	0	0	0	8
See cases	0	0	1	1	0	2
FRYL-associated neurodevelopmental disorder	1	0	0	0	0	1
FRYL-related disorder	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Ambry Genetics	3	0	162	5	0	170
GeneDx	3	1	40	1	1	46
Labcorp Genetics (formerly Invitae), Labcorp	2	0	7	2	8	19
Wendy Chung Laboratory, Boston Children's Hospital	0	0	14	0	0	14
OMIM	7	0	0	0	0	7
Breakthrough Genomics, Breakthrough Genomics	0	0	0	0	7	7
CeGaT Center for Human Genetics Tuebingen	0	0	0	6	0	6
Institute of Human Genetics, University of Leipzig Medical Center	2	0	0	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	0	1	0	0	1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	0	1	0	0	1
New York Genome Center	0	0	1	0	0	1
3billion	0	1	0	0	0	1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital	0	1	0	0	0	1

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