ClinVar Miner

Variants studied for thrombophilia due to protein S deficiency, autosomal recessive

Included ClinVar conditions (2):
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 not provided total
58 18 138 142 24 1 375

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PROS1 56 18 137 142 24 1 372
ARL13B, DHFR2, NSUN3, PROS1, STX19 1 0 0 0 0 0 1
ARL13B, LOC123002313, LOC129937098, LOC129937099, PROS1, STX19 1 0 0 0 0 0 1
ARL13B, PROS1, STX19 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 55 14 129 141 24 0 363
Fulgent Genetics, Fulgent Genetics 0 2 21 1 0 0 24
Juno Genomics, Hangzhou Juno Genomics, Inc 1 4 3 0 0 0 8
OMIM 3 0 0 0 0 0 3
New York Genome Center 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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