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 |
|---|---|---|---|---|---|
| 19 | 7 | 162 | 86 | 22 | 284 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| SKI | 14 | 7 | 160 | 86 | 22 | 277 |
| KIFBP | 5 | 0 | 0 | 0 | 0 | 5 |
| ACAP3, ACTRT2, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES5, INTS11, MIB2, MIR200A, MIR200B, MIR429, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, PANK4, PEX10, PLCH2, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TTC34, TTLL10, UBE2J2, VWA1 | 0 | 0 | 1 | 0 | 0 | 1 |
| LOC112577524, SKI | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Invitae | 4 | 2 | 153 | 81 | 19 | 259 |
| ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories | 0 | 0 | 0 | 10 | 13 | 23 |
| OMIM | 15 | 0 | 0 | 0 | 0 | 15 |
| Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University | 9 | 0 | 0 | 0 | 0 | 9 |
| Baylor Genetics | 1 | 0 | 5 | 0 | 0 | 6 |
| Fulgent Genetics,Fulgent Genetics | 0 | 0 | 6 | 0 | 0 | 6 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 4 | 0 | 0 | 4 |
| Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille | 2 | 0 | 0 | 0 | 0 | 2 |
| Centre for Mendelian Genomics,University Medical Centre Ljubljana | 0 | 1 | 1 | 0 | 0 | 2 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 1 | 1 | 0 | 0 | 0 | 2 |
| Genetic Services Laboratory, University of Chicago | 0 | 1 | 0 | 0 | 0 | 1 |
| Mendelics | 0 | 0 | 0 | 1 | 0 | 1 |
| Blueprint Genetics | 0 | 1 | 0 | 0 | 0 | 1 |
| Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego | 1 | 0 | 0 | 0 | 0 | 1 |
| SIB Swiss Institute of Bioinformatics | 0 | 1 | 0 | 0 | 0 | 1 |