Variants from LDLR-LOVD, British Heart Foundation

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
576	787	116	181	26	1686

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
LDLR	562	784	116	178	24	1664
LDLR, MIR6886	9	2	0	3	1	15
LDLR, LOC126862855, LOC126862856	3	0	0	0	0	3
LDLR, LOC126862856	1	1	0	0	0	2
LDLR, LOC126862855	0	0	0	0	1	1
LDLR, LOC126862855, LOC126862856, MIR6886	1	0	0	0	0	1

Condition and significance breakdown #

Total conditions: 2

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Hypercholesterolemia, familial, 1	576	787	114	181	26	1684
Familial hypercholesterolemia	0	0	2	0	0	2

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