Variants in gene FBN3 - 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
0	0	748	479	195	1348

Condition and significance breakdown #

Total conditions: 6

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Condition	uncertain significance	likely benign	benign	total
not provided	540	433	183	1136
not specified	322	26	0	348
FBN3-related disorder	2	71	91	164
Flexion contracture	1	1	0	2
Aortic valve disease 1	1	0	0	1
See cases	0	1	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	528	410	182	1120
Ambry Genetics	321	26	0	347
PreventionGenetics, part of Exact Sciences	2	71	91	164
Breakthrough Genomics, Breakthrough Genomics	4	18	119	141
CeGaT Center for Human Genetics Tuebingen	10	32	2	44
GeneDx	1	1	6	8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	2	0	0	2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	1	1	0	2
Revvity Omics, Revvity	1	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	1	0	0	1
Centre of Medical Genetics, University of Antwerp	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	1

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