Variants studied for Bamforth-Lazarus syndrome

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
4	0	6	3	4	16

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	uncertain significance	likely benign	benign	total
FOXE1	4	6	3	4	16

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	uncertain significance	likely benign	benign	total
OMIM	4	0	0	0	4
Baylor Genetics	0	3	0	0	3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	1	2	3
Revvity Omics, Revvity	0	2	0	0	2
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	1	1	2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	2	2
Mendelics	0	0	1	0	1
Fulgent Genetics, Fulgent Genetics	0	0	1	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	1	0	0	1

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