Variants studied for hyperprolinemia type 2

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
7	9	143	86	51	259

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ALDH4A1	6	8	127	74	46	229
ALDH4A1, LOC120893116	0	0	9	6	3	16
ALDH4A1, LOC129929550	1	1	6	4	1	11
ALDH4A1, MIR4695	0	0	0	2	1	2
AKR7A2, AKR7A3, AKR7L, ALDH4A1, ALPL, C1QA, C1QB, C1QC, CAMK2N1, CAPZB, CDA, CDC42, CELA3A, CELA3B, DDOST, ECE1, EIF4G3, EMC1, EPHA8, FAM43B, HP1BP3, HSPG2, HTR6, IFFO2, KIF17, LDLRAD2, MICOS10, MICOS10-NBL1, MRTO4, MUL1, NBL1, NBPF3, OTUD3, PINK1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, RAP1GAP, RNF186, SH2D5, SLC66A1, TMCO4, UBR4, UBXN10, USP48, VWA5B1, WNT4, ZBTB40	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	1	2	70	73	31	177
Illumina Laboratory Services, Illumina	0	1	75	12	19	107
Genome-Nilou Lab	0	0	0	0	14	14
Fulgent Genetics, Fulgent Genetics	0	1	6	0	0	7
Baylor Genetics	0	1	3	0	0	4
OMIM	3	0	0	0	0	3
Revvity Omics, Revvity	0	1	2	0	0	3
3billion	2	0	0	1	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	1	0	0	0	2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	1	0	0	2
Elsea Laboratory, Baylor College of Medicine	0	0	1	0	0	1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	1	0	0	0	1
Donald Williams Parsons Laboratory, Baylor College of Medicine	1	0	0	0	0	1
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	1	0	0	0	1

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