ClinVar Miner

Variants studied for Arthrogryposis, distal, type 1A

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 risk factor total
13 11 84 110 21 1 237

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
TPM2 12 11 79 110 21 0 230
MYH8, MYHAS 0 0 2 0 0 0 2
ANKRD18B, APTX, AQP3, AQP7, ARHGEF39, ARID3C, ATOSB, B4GALT1, BAG1, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CHMP5, CIMIP2B, CLTA, CNTFR, CREB3, DCAF12, DCTN3, DNAI1, DNAJA1, DNAJB5, ENHO, EXOSC3, FAM219A, FAM221B, FANCG, FBXO10, FRMPD1, GALT, GBA2, GLIPR2, GNE, GRHPR, HINT2, HRCT1, IL11RA, KIF24, MELK, MSMP, MYORG, NDUFB6, NFX1, NOL6, NPR2, NUDT2, OR13J1, OR2S2, PAX5, PHF24, PIGO, POLR1E, PRSS3, RECK, RGP1, RIGI, RMRP, RNF38, RPP25L, RUSC2, SIGMAR1, SIT1, SMU1, SPAG8, SPATA31F1, SPATA31G1, SPINK4, SPMIP6, STOML2, TAF1L, TESK1, TLN1, TMEM215, TMEM8B, TOMM5, TOPORS, TPM2, TRMT10B, UBAP1, UBAP2, UBE2R2, UNC13B, VCP, ZBTB5, ZCCHC7 0 0 1 0 0 0 1
CCIN, CLTA, CREB3, FAM221B, GBA2, GLIPR2, GNE, HINT2, HRCT1, MSMP, NPR2, OR13J1, OR2S2, RECK, RGP1, SPAG8, TLN1, TMEM8B, TPM2 0 0 1 0 0 0 1
CNTNAP1 1 0 0 0 0 0 1
MET 0 0 0 0 0 1 1
MYH3 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Labcorp Genetics (formerly Invitae), Labcorp 9 10 62 110 15 0 206
Illumina Laboratory Services, Illumina 0 0 17 1 6 0 24
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 4 0 0 0 4
Mendelics 1 0 0 0 1 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 2
OMIM 1 0 0 0 0 0 1
Baylor Genetics 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
The Spine Surgery of The First Affiliated Hospital, Sun Yat-sen University 0 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
3billion, Medical Genetics 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1

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