Variants studied for Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

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
43	23	299	284	17	666

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
GPHN	42	22	291	273	17	645
GPHN, LOC126861970	0	1	8	11	0	20
GPHN, LOC129390637, LOC130055881, LOC130055882, LOC130055883, LOC130055884, LOC130055885, LOC130055886, LOC130055887, LOC130055888, LOC132090246, LOC132090247, LOC132090248, LOC132090249, LOC132090250	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	41	19	297	283	17	657
Baylor Genetics	0	0	4	0	0	4
NeuroMeGen, Hospital Clinico Santiago de Compostela	0	3	0	0	0	3
OMIM	2	0	0	0	0	2
Revvity Omics, Revvity	0	0	2	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	1	0	1
Division of Human Genetics, Children's Hospital of Philadelphia	0	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	1
Laboratory Cellgenetics, GMDL Cellgenetics	0	1	0	0	0	1

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