ClinVar Miner

Variants in gene LORICRIN

See also:
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
4 3 61 18 16 97

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 2 1 20 16 16 54
not specified 0 0 41 2 0 43
Loricrin keratoderma 3 2 3 1 0 9

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 20 13 14 48
Ambry Genetics 0 0 41 2 0 43
GeneDx 2 1 0 0 6 9
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 7 7
CeGaT Center for Human Genetics Tuebingen 1 0 0 2 3 6
OMIM 2 0 0 0 0 2
Revvity Omics, Revvity 1 1 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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