Variants from Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital

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
140	3	14	1	1	159

Gene and significance breakdown #

Total genes and gene combinations: 7

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
LDLR	135	3	13	1	1	153
AP2S1	1	0	0	0	0	1
CASR	1	0	0	0	0	1
GCK	1	0	0	0	0	1
LDLR, LOC126862855, LOC126862856	1	0	0	0	0	1
LDLR, MIR6886	1	0	0	0	0	1
PCSK9	0	0	1	0	0	1

Condition and significance breakdown #

Total conditions: 5

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Hypercholesterolemia, familial, 1	137	3	13	1	1	155
Familial hypocalciuric hypercalcemia 1	1	0	0	0	0	1
Familial hypocalciuric hypercalcemia 3	1	0	0	0	0	1
Hypercholesterolemia, autosomal dominant, 3	0	0	1	0	0	1
Maturity-onset diabetes of the young type 2	1	0	0	0	0	1

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