ClinVar Miner

Variants studied for Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
82 40 1153 1336 52 2663

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TERT 72 39 1065 1229 48 2453
LOC110806263, TERT 9 1 83 106 3 202
LOC110806264, TERT 0 0 0 1 1 2
BRD9, CEP72, CLPTM1L, IRX4, LPCAT1, MRPL36, NDUFS6, NKD2, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B 1 0 0 0 0 1
CLPTM1L, SLC6A18, SLC6A19, SLC6A3, TERT 0 0 1 0 0 1
CLPTM1L, SLC6A3, TERT 0 0 1 0 0 1
CLPTM1L, TERT 0 0 1 0 0 1
NKD2, SLC12A7, SLC6A18, SLC6A19, TERT, TRIP13 0 0 1 0 0 1
SLC6A18, SLC6A19, TERT 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 82 40 1153 1336 52 2663

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