Variants studied for Arthrogryposis, distal, type 1A

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)

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
16	12	97	128	21	271

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	total
TPM2	14	12	92	128	21	264
MYH8, MYHAS	0	0	2	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	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	1
CNTNAP1	1	0	0	0	0	1
MET	1	0	0	0	0	1
MYH3	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	10	11	73	127	15	236
Illumina Laboratory Services, Illumina	0	0	17	1	6	24
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	4	0	0	4
3billion	1	0	1	0	0	2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	1	1	0	0	0	2
Mendelics	1	0	0	0	1	2
Baylor Genetics	1	0	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	1	0	0	1
CENTOGENE GmbH and LLC - Guiding Precision Medicine	1	0	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	0	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	0	1
Medical Genetics Laboratory, Niloo Shiraz Laboratory	0	0	0	1	0	1
Neuberg Centre For Genomic Medicine, NCGM	1	0	0	0	0	1
OMIM	1	0	0	0	0	1
Suma Genomics	1	0	0	0	0	1
The Spine Surgery of The First Affiliated Hospital, Sun Yat-sen University	1	0	0	0	0	1

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