Variants studied for Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1

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	not provided	total
111	20	661	1541	280	1	2438

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	not provided	total
APOB	109	16	632	1486	267	1	2339
APOB, LOC106560211	1	4	21	44	10	0	78
APOB, APOB3'MAR	1	0	8	11	3	0	21

Submitter and significance breakdown #

Total submitters: 5

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	108	16	435	1539	280	0	2378
Fulgent Genetics, Fulgent Genetics	7	4	220	16	0	0	247
New York Genome Center	4	0	52	0	0	0	56
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust	1	0	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1

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