Variants studied for Meckel syndrome, type 5

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
11	87	324	37	16	471

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
RPGRIP1L	11	87	321	37	16	468
LOC130059035, RPGRIP1L	0	0	3	0	0	3

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	8	82	233	33	1	356
Illumina Laboratory Services, Illumina	0	0	113	4	9	126
Genome-Nilou Lab	0	0	0	0	12	12
Baylor Genetics	1	0	3	0	0	4
OMIM	3	0	0	0	0	3
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	2	0	1	3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)	0	2	0	0	0	2
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	2	0	0	0	2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	0	1	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	1

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