ClinVar Miner

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

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
50 14 109 104 23 299

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 total
PROS1 48 14 108 104 23 296
ARL13B, DHFR2, NSUN3, PROS1, STX19 1 0 0 0 0 1
ARL13B, LOC123002313, LOC129937098, LOC129937099, PROS1, STX19 1 0 0 0 0 1
ARL13B, PROS1, STX19 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 47 14 109 104 23 297
OMIM 3 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 1 1

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