ClinVar Miner

Variants studied for Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia

Coded as:
Minimum submission review status: Collection method:
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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
118 17 132 279 12 551

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SLC26A2 118 17 132 279 12 551

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 118 12 131 277 12 550
Fulgent Genetics, Fulgent Genetics 4 4 1 2 0 11
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 1

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