Variants in gene combination LOC126863212, OFD1

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	1	34	18	5	59

Condition and significance breakdown #

Total conditions: 9

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Joubert syndrome; Orofaciodigital syndrome I	2	0	25	10	2	39
not provided	2	1	6	7	3	18
Primary ciliary dyskinesia	0	0	4	1	0	5
Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10	0	0	4	0	0	4
OFD1-related disorder	0	0	3	0	0	3
not specified	0	0	0	2	0	2
Inborn genetic diseases	0	0	1	0	0	1
Joubert syndrome 10	0	0	1	0	0	1
OFD1-related ciliopathy	0	0	1	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	2	0	25	10	2	39
GeneDx	1	0	3	7	3	14
Ambry Genetics	0	0	5	1	0	6
PreventionGenetics, part of Exact Sciences	0	0	3	1	0	4
Fulgent Genetics, Fulgent Genetics	0	0	4	0	0	4
Breakthrough Genomics, Breakthrough Genomics	0	0	0	2	2	4
Eurofins Ntd Llc (ga)	1	0	1	0	0	2
Baylor Genetics	0	0	1	0	0	1
Genetic Services Laboratory, University of Chicago	0	0	0	1	0	1
Revvity Omics, Revvity	0	1	0	0	0	1
Illumina Laboratory Services, Illumina	0	0	1	0	0	1
CeGaT Center for Human Genetics Tuebingen	0	0	0	1	0	1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare	0	0	1	0	0	1
AiLife Diagnostics, AiLife Diagnostics	0	0	1	0	0	1

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