Variants studied for pyropoikilocytosis, hereditary

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
14	4	220	22	42	300

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
SPTA1	13	4	195	21	39	270
OR10Z1, SPTA1	0	0	24	1	3	28
SPTB	1	0	1	0	0	2

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	215	22	33	270
Genome-Nilou Lab	0	0	0	0	22	22
OMIM	10	0	0	0	0	10
Fulgent Genetics, Fulgent Genetics	1	0	0	4	2	7
Mendelics	1	2	0	0	1	4
Baylor Genetics	1	0	1	0	0	2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology	0	2	0	0	0	2
Nalepa Lab, Indiana University School of Medicine	1	0	1	0	0	2
3billion	2	0	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	2
Subrahamanyam Lab, Department of Biochemistry, National Institute of Nutrition, Indian Council of Medical Research	0	0	1	0	0	1

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