ClinVar Miner

Variants studied for Hypercholesterolemia, familial, 4

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
49 17 131 295 27 487

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
LDLRAP1 38 15 109 260 25 420
LDLRAP1, LOC129929773 10 2 22 35 2 66
AUNIP, CATSPER4, CD52, CEP85, CNKSR1, CRYBG2, DHDDS, EXTL1, FAM110D, LDLRAP1, LIN28A, MAN1C1, MTFR1L, PAFAH2, PAQR7, PDIK1L, SELENON, SH3BGRL3, SLC30A2, STMN1, TRIM63, UBXN11, ZNF593, ZNF683 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 42 8 61 282 12 405
Genome-Nilou Lab 8 4 32 39 7 90
Illumina Laboratory Services, Illumina 0 0 65 8 11 84
Fulgent Genetics, Fulgent Genetics 5 4 16 3 0 28
GENinCode PLC 0 0 0 18 9 27
Revvity Omics, Revvity 8 6 0 0 0 14
OMIM 11 0 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 3 3 6
Institute of Human Genetics, Medical University Innsbruck 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 1 0 0 1
Phosphorus, Inc. 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 1
New York Genome Center 0 0 1 0 0 1
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1

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