ClinVar Miner

Variants studied for acute interstitial pneumonia

Included ClinVar conditions (4):
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
29 5 242 212 45 1 518

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TERT 12 1 214 181 34 0 426
LOC110806263, TERT 5 0 13 7 1 0 26
SFTPC 0 0 4 21 0 0 25
BMP1, SFTPC 0 0 0 3 10 0 13
RTEL1, RTEL1-TNFRSF6B 9 2 0 0 0 0 11
SFTPA2 2 0 1 0 0 0 3
ABCA3 0 2 0 0 0 0 2
LOC110806263, LOC110806264, TERT 0 0 2 0 0 0 2
CTC1 0 0 1 0 0 0 1
DTNBP1 0 0 1 0 0 0 1
HPS4 0 0 1 0 0 0 1
IL1RN 0 0 1 0 0 0 1
LAMA3 0 0 1 0 0 0 1
MMP1 0 0 1 0 0 0 1
MMP19 0 0 1 0 0 0 1
MUC5B 0 0 0 0 0 1 1
RTKN2 0 0 1 0 0 0 1
TERC 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 5 0 221 173 31 0 430
Illumina Clinical Services Laboratory,Illumina 0 0 12 45 18 0 75
GeneReviews 13 0 0 0 0 0 13
Department of Respiratory and Critical Care Medicine, Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology 2 2 8 0 0 0 12
University of Washington Center for Mendelian Genomics,University of Washington 9 0 0 0 0 0 9
Fulgent Genetics 0 0 6 0 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 3 0 0 0 1 4
OMIM 2 0 0 0 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 0 0 1 0 0 0 1

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