Molecular Diagnostics Laboratory (M Health Fairview: University of Minnesota), UMMC-MDL
General information
Molecular Diagnostics Laboratory, UMMC-MDL
M Health Fairview: University of Minnesota
420 Delaware St.
Minneapolis
Minnesota
United States - 55455
https://www.pathology.umn.edu/clinical-services
Organization ID: 506641
M Health Fairview: University of Minnesota
420 Delaware St.
Minneapolis
Minnesota
United States - 55455
https://www.pathology.umn.edu/clinical-services
Organization ID: 506641
Personnel
- Matthew Bower, Genetic Counselor
Phone: 612-624-8948
Email: mbower1@fairview.org - Sarah Bray, Genetic Counselor
Phone: 612-273-8533
Email: sbray1@fairview.org
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 558
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA2 | 1 | Aug 22, 2023 |
| ABCA3 | 2 | Mar 27, 2020 |
| ABCA4 | 2 | Jan 16, 2019 |
| ABCC6 | 1 | Aug 8, 2018 |
| ABCC8 | 2 | Nov 8, 2022 |
| ABCD1 | 26 | Oct 16, 2025 |
| ACADM | 1 | Mar 22, 2019 |
| ACADS | 1 | Nov 11, 2018 |
| ACADVL | 3 | Mar 19, 2024 |
| ACTA1 | 1 | Jul 8, 2024 |
| ACVRL1 | 2 | Oct 16, 2025 |
| ADGRV1 | 1 | Nov 11, 2018 |
| ADPRS | 1 | May 13, 2025 |
| AGL | 3 | Jul 18, 2019 |
| ALPL | 9 | Aug 22, 2023 |
| ANKRD11 | 1 | Feb 9, 2023 |
| ANOS1 | 1 | Jan 16, 2019 |
| APC | 1 | Nov 11, 2018 |
| APOE | 1 | Jul 18, 2019 |
| AR | 1 | Aug 22, 2023 |
| ARID1B | 1 | Aug 8, 2018 |
| ARSB | 2 | Jan 16, 2019 |
| ARX | 1 | Jan 14, 2021 |
| ASL | 1 | Aug 22, 2023 |
| ASS1 | 1 | Nov 11, 2018 |
| ATL1 | 2 | Nov 11, 2018 |
| ATM | 2 | Feb 2, 2022 |
| ATP6V0A4 | 1 | Nov 11, 2018 |
| ATP7B | 2 | May 15, 2025 |
| AUH | 1 | Aug 22, 2018 |
| AXIN2 | 1 | Apr 29, 2021 |
| BBS1 | 1 | Nov 11, 2018 |
| BBS7 | 1 | Aug 8, 2018 |
| BCOR | 3 | May 13, 2025 |
| BEST1 | 2 | Nov 11, 2018 |
| BMPR2 | 1 | Oct 16, 2025 |
| BRCA2 | 2 | Feb 2, 2022 |
| BRIP1 | 2 | Mar 19, 2026 |
| BTD | 1 | Aug 5, 2019 |
| C11orf65 | 1 | Feb 2, 2022 |
| CACNA1A | 1 | Oct 16, 2025 |
| CAPN3 | 1 | Aug 8, 2018 |
| CASD1 | 1 | Dec 24, 2018 |
| CASR | 1 | May 13, 2025 |
| CCDC39 | 2 | Jan 14, 2021 |
| CCNH | 2 | May 13, 2025 |
| CD40LG | 1 | Nov 11, 2018 |
| CDH1 | 1 | Oct 18, 2021 |
| CDH23 | 5 | Nov 11, 2018 |
| CEACAM16 | 1 | Jul 18, 2019 |
| CEACAM16-AS1 | 1 | Jul 18, 2019 |
| CENPF | 2 | Jan 16, 2019 |
| CEP152 | 1 | Nov 11, 2018 |
| CEP290 | 1 | Aug 8, 2018 |
| CFTR | 1 | Oct 16, 2025 |
| CHD7 | 2 | Jan 22, 2024 |
| CHRNA1 | 1 | Mar 19, 2026 |
| CLCN1 | 1 | Jan 16, 2019 |
| CLCN7 | 1 | Aug 8, 2018 |
| CLDN5 | 1 | Mar 19, 2024 |
| CLPB | 2 | Dec 7, 2023 |
| CNGB3 | 1 | Jan 16, 2019 |
| CNOT3 | 1 | Oct 18, 2021 |
| COL11A1 | 4 | Jun 10, 2021 |
| COL11A2 | 1 | Jan 16, 2019 |
| COL17A1 | 6 | Oct 16, 2025 |
| COL18A1 | 1 | Jan 16, 2019 |
| COL1A1 | 3 | Aug 6, 2025 |
| COL1A2 | 1 | Apr 29, 2021 |
| COL2A1 | 2 | Oct 18, 2021 |
| COL3A1 | 2 | Jun 10, 2021 |
| COL4A1 | 1 | Feb 2, 2022 |
| COL4A2 | 1 | Nov 11, 2018 |
| COL4A2-AS1 | 1 | Nov 11, 2018 |
| COL4A3 | 3 | Nov 11, 2018 |
| COL4A5 | 5 | Jan 16, 2019 |
| COL5A1 | 4 | Mar 19, 2026 |
| COL5A2 | 1 | Nov 8, 2022 |
| COL6A1 | 1 | Nov 11, 2018 |
| COL6A3 | 1 | Aug 22, 2018 |
| COL7A1 | 7 | Oct 16, 2025 |
| COMMD8 | 2 | Dec 26, 2024 |
| COMP | 1 | Nov 11, 2018 |
| COQ2 | 1 | May 13, 2025 |
| CPS1 | 2 | Apr 29, 2021 |
| CRYBA4 | 1 | May 11, 2022 |
| CRYBB1 | 1 | May 11, 2022 |
| CRYBB2 | 1 | Jan 14, 2021 |
| CRYGD | 1 | Jun 10, 2021 |
| CSF1R | 1 | Oct 18, 2021 |
| CSNK2A1 | 1 | Oct 16, 2025 |
| CSPP1 | 1 | Jul 18, 2019 |
| CTNS | 1 | Aug 22, 2018 |
| CYBB | 2 | Mar 19, 2026 |
| CYP1B1 | 2 | Oct 18, 2021 |
| CYP7B1 | 1 | May 13, 2025 |
| DCC | 2 | May 13, 2025 |
| DDX3X | 1 | Mar 19, 2024 |
| DDX41 | 1 | Oct 16, 2025 |
| DOCK6 | 1 | Nov 11, 2018 |
| DOCK6-AS1 | 1 | Nov 11, 2018 |
| DYNC1H1 | 1 | Nov 8, 2022 |
| EBF3 | 1 | Oct 18, 2021 |
| ECEL1 | 1 | Aug 22, 2018 |
| ECM1 | 1 | Mar 19, 2026 |
| EDA | 3 | May 13, 2025 |
| EFTUD2 | 1 | Aug 22, 2023 |
| ELN | 1 | Mar 27, 2020 |
| ENG | 1 | May 11, 2022 |
| EPB41 | 1 | Jul 18, 2019 |
| EPHB4 | 3 | Feb 2, 2022 |
| ERCC6 | 1 | May 11, 2022 |
| ESPN | 1 | Nov 11, 2018 |
| EXT1 | 1 | Dec 26, 2024 |
| EXT2 | 2 | Jul 8, 2024 |
| EYA4 | 1 | Nov 11, 2018 |
| EYS | 2 | Aug 22, 2018 |
| F10 | 1 | May 11, 2022 |
| F13A1 | 1 | May 15, 2025 |
| F8 | 2 | Mar 19, 2024 |
| F9 | 2 | Mar 19, 2026 |
| FAM161A | 1 | Nov 11, 2018 |
| FANCA | 17 | Mar 19, 2026 |
| FANCD2 | 3 | Dec 26, 2024 |
| FANCG | 4 | Jan 16, 2019 |
| FBN1 | 6 | Aug 22, 2023 |
| FBN2 | 1 | Aug 6, 2025 |
| FBP1 | 1 | Aug 22, 2018 |
| FECH | 2 | Nov 11, 2018 |
| FGFR1 | 1 | Apr 29, 2021 |
| FGFR3 | 1 | Aug 22, 2023 |
| FLCN | 1 | Nov 11, 2018 |
| FLNA | 3 | Oct 16, 2025 |
| FOXC2 | 2 | Jan 14, 2021 |
| FOXF1 | 1 | Oct 18, 2021 |
| FRAS1 | 1 | Nov 11, 2018 |
| GALC | 1 | Jul 18, 2019 |
| GALE | 1 | Nov 8, 2022 |
| GALNS | 2 | Jan 16, 2019 |
| GATA2 | 1 | Nov 11, 2018 |
| GATA3 | 1 | Apr 29, 2021 |
| GBA1 | 1 | Nov 11, 2018 |
| GCDH | 1 | Jan 16, 2019 |
| GCK | 4 | Aug 22, 2023 |
| GLB1 | 2 | Aug 22, 2018 |
| GLI2 | 1 | Feb 9, 2023 |
| GLMN | 1 | Mar 27, 2020 |
| GLUD1 | 1 | Aug 22, 2018 |
| GNAS | 2 | Jan 14, 2021 |
| GPHN | 1 | Dec 24, 2018 |
| GPR143 | 2 | Mar 27, 2020 |
| GPR179 | 1 | Nov 11, 2018 |
| GREB1L | 1 | Aug 22, 2023 |
| GUCY2C | 1 | Dec 26, 2024 |
| HDAC8 | 3 | May 13, 2025 |
| HMBS | 1 | Mar 27, 2020 |
| HNF1B | 2 | Aug 5, 2019 |
| HYDIN | 2 | Dec 26, 2024 |
| IDH1 | 2 | Feb 3, 2021 |
| IDUA | 1 | Nov 11, 2018 |
| IL7R | 1 | Jul 18, 2019 |
| INF2 | 1 | Oct 7, 2020 |
| INPP4A | 1 | Dec 24, 2018 |
| IQSEC2 | 1 | Nov 11, 2018 |
| ITGA6 | 1 | Jan 16, 2019 |
| ITGA6-AS1 | 1 | Jan 16, 2019 |
| ITGB2 | 1 | Nov 11, 2018 |
| ITGB3 | 2 | Nov 11, 2018 |
| JAG1 | 3 | May 13, 2025 |
| JMJD8 | 2 | May 11, 2022 |
| KCNA1 | 1 | May 13, 2025 |
| KCNH2 | 1 | Oct 18, 2021 |
| KIF1C | 1 | Oct 16, 2025 |
| KMT2B | 2 | May 13, 2025 |
| KMT2D | 1 | Sep 27, 2018 |
| KRIT1 | 1 | Dec 26, 2024 |
| KRT1 | 1 | Feb 2, 2022 |
| KRT5 | 2 | Feb 2, 2022 |
| L1CAM | 1 | Oct 16, 2025 |
| LAMA2 | 1 | Nov 11, 2018 |
| LAMA3 | 2 | Jul 8, 2024 |
| LAMB2 | 1 | Nov 11, 2018 |
| LAMB3 | 1 | Feb 9, 2023 |
| LAMC2 | 1 | Nov 11, 2018 |
| LARS2 | 1 | Nov 11, 2018 |
| LARS2-AS1 | 1 | Nov 11, 2018 |
| LEMD3 | 2 | Nov 11, 2018 |
| LIPA | 1 | Sep 27, 2018 |
| LMX1B | 1 | Jan 14, 2021 |
| LOC100507346 | 1 | Sep 27, 2018 |
| LOC100507443 | 1 | Jun 10, 2021 |
| LOC106627981 | 1 | Nov 11, 2018 |
| LOC107303338 | 2 | Dec 26, 2024 |
| LOC111982869 | 1 | Nov 11, 2018 |
| LOC112486223 | 1 | Aug 22, 2018 |
| LOC122889011 | 1 | Aug 22, 2018 |
| LOC126807127 | 1 | Dec 24, 2018 |
| LOC126859827 | 1 | Dec 26, 2024 |
| LOC126860124 | 1 | Jun 10, 2021 |
| LOC126860796 | 1 | Aug 22, 2023 |
| LOC126861520 | 1 | Sep 27, 2018 |
| LOC126861526 | 1 | Feb 2, 2022 |
| LOC126862860 | 1 | Jan 16, 2019 |
| LOC126863239 | 2 | May 13, 2025 |
| LOC129936434 | 1 | Aug 22, 2018 |
| LOC129992546 | 1 | Dec 26, 2024 |
| LOC129994826 | 1 | Dec 24, 2018 |
| LOC130006336 | 1 | Jun 10, 2021 |
| LOC130057317 | 1 | Mar 19, 2026 |
| LOC130059837 | 1 | Jul 18, 2019 |
| LRP5 | 1 | Jan 16, 2019 |
| LURAP1L-AS1 | 1 | Aug 22, 2023 |
| LZTR1 | 1 | Jan 16, 2019 |
| MAF | 1 | Oct 16, 2025 |
| MCCC2 | 1 | Mar 19, 2026 |
| MED12 | 1 | Oct 18, 2021 |
| MEN1 | 1 | Jan 16, 2019 |
| MFF-DT | 3 | Nov 11, 2018 |
| MFN2 | 1 | Nov 11, 2018 |
| MLC1 | 2 | Aug 6, 2025 |
| MRE11 | 1 | Jan 14, 2021 |
| MSH6 | 1 | Oct 7, 2020 |
| MTM1 | 1 | Sep 27, 2018 |
| MTO1 | 1 | Dec 26, 2024 |
| MVP-DT | 1 | Jul 18, 2019 |
| MYH3 | 1 | Mar 27, 2020 |
| MYO7A | 2 | Sep 27, 2018 |
| NAGS | 1 | Dec 24, 2018 |
| NBAS | 2 | Jan 16, 2019 |
| NBEAL2 | 2 | Feb 2, 2022 |
| NBN | 1 | Jan 14, 2021 |
| NEB | 1 | Sep 27, 2018 |
| NF1 | 1 | Dec 24, 2018 |
| NFIX | 1 | Dec 24, 2018 |
| NFKB1 | 2 | Dec 24, 2018 |
| NKX2-5 | 1 | Aug 6, 2025 |
| NOTCH3 | 2 | Jan 16, 2019 |
| NPC1 | 2 | May 11, 2022 |
| NPHP4 | 1 | Oct 18, 2021 |
| NPHS2 | 1 | Jul 18, 2019 |
| NR3C2 | 2 | Feb 2, 2022 |
| NRXN1 | 1 | Aug 22, 2023 |
| NSD1 | 2 | Oct 16, 2025 |
| OCA2 | 3 | Mar 19, 2026 |
| OFD1 | 1 | Mar 27, 2020 |
| OPA1 | 1 | Apr 29, 2021 |
| OTC | 3 | Mar 19, 2026 |
| OTOA | 1 | Dec 24, 2018 |
| OTOG | 2 | Jan 14, 2021 |
| P3H1 | 1 | Aug 22, 2023 |
| PAH | 4 | May 15, 2025 |
| PALB2 | 1 | Mar 19, 2026 |
| PARN | 1 | May 13, 2025 |
| PAX2 | 1 | Jan 16, 2019 |
| PC | 2 | Jul 8, 2024 |
| PCNT | 1 | Dec 24, 2018 |
| PDK1-AS1 | 1 | Jan 16, 2019 |
| PDZD7 | 1 | Mar 27, 2020 |
| PEX1 | 1 | Sep 27, 2018 |
| PHEX | 2 | Dec 24, 2018 |
| PHF6 | 1 | Dec 24, 2018 |
| PKD1 | 6 | Oct 18, 2021 |
| PKD1-AS1 | 1 | Oct 18, 2021 |
| PKHD1 | 5 | Oct 16, 2025 |
| PKLR | 1 | Mar 19, 2026 |
| PLXNB3-AS1 | 14 | Oct 16, 2025 |
| PNPLA2 | 1 | Sep 27, 2018 |
| POLR3B | 1 | Sep 27, 2018 |
| PPOX | 1 | Dec 24, 2018 |
| PROC | 4 | Aug 22, 2023 |
| PROM1 | 2 | Jan 16, 2019 |
| PROS1 | 1 | Jul 8, 2024 |
| PRPF31 | 1 | Jul 18, 2019 |
| PRPF31-AS1 | 1 | Jul 18, 2019 |
| PRPF8 | 1 | Dec 24, 2018 |
| PRPH2 | 1 | Dec 24, 2018 |
| PRRT2 | 1 | Jul 18, 2019 |
| PSEN1 | 1 | Oct 7, 2020 |
| PTCH1 | 1 | Sep 27, 2018 |
| PTCHD1-AS | 2 | Dec 24, 2018 |
| PTEN | 6 | Nov 8, 2022 |
| PURA | 1 | Dec 24, 2018 |
| PUS7 | 2 | May 13, 2025 |
| PYGM | 1 | Dec 24, 2018 |
| RAB28 | 2 | Jun 10, 2021 |
| RAP1B | 1 | Oct 18, 2021 |
| RASA1 | 2 | May 13, 2025 |
| RBM10 | 1 | Mar 19, 2026 |
| RDH12 | 1 | Dec 24, 2018 |
| RIF1 | 1 | Sep 27, 2018 |
| RMND1 | 1 | Oct 7, 2020 |
| RNU4ATAC | 1 | Dec 24, 2018 |
| RNU5B-1 | 1 | Mar 19, 2026 |
| RP2 | 1 | Sep 27, 2018 |
| RPGR | 5 | Mar 27, 2020 |
| RPGRIP1 | 1 | Dec 24, 2018 |
| RPS19 | 1 | Jun 10, 2021 |
| RPS26 | 1 | Sep 27, 2018 |
| RPS6KA3 | 1 | Sep 27, 2018 |
| RTEL1 | 1 | May 11, 2022 |
| RTEL1-TNFRSF6B | 1 | May 11, 2022 |
| RUNX2 | 1 | Jan 14, 2021 |
| RYR1 | 4 | Aug 5, 2019 |
| SALL1 | 1 | Jan 22, 2024 |
| SCN11A | 1 | Jul 18, 2019 |
| SCN1A | 1 | Mar 27, 2020 |
| SCN8A | 1 | Aug 22, 2023 |
| SDCCAG8 | 4 | Dec 24, 2018 |
| SERAC1 | 2 | Jun 10, 2021 |
| SERPINA1 | 1 | Dec 26, 2024 |
| SERPINC1 | 1 | Feb 9, 2023 |
| SFTPC | 2 | Apr 29, 2021 |
| SGCE | 1 | Dec 24, 2018 |
| SH3TC2 | 1 | Mar 27, 2020 |
| SI | 1 | Oct 16, 2025 |
| SKIC2 | 1 | Mar 19, 2026 |
| SLC12A1 | 1 | Dec 24, 2018 |
| SLC12A3 | 2 | Jun 10, 2021 |
| SLC19A1 | 1 | Jan 16, 2019 |
| SLC20A2 | 1 | Jan 16, 2019 |
| SLC22A5 | 1 | Sep 27, 2018 |
| SLC25A15 | 1 | Sep 27, 2018 |
| SLC52A3 | 1 | Dec 24, 2018 |
| SLC6A1 | 1 | Nov 8, 2022 |
| SLX4 | 1 | Dec 24, 2018 |
| SON | 1 | Nov 8, 2022 |
| SPAST | 2 | Dec 24, 2018 |
| SPG7 | 1 | Dec 24, 2018 |
| SPRED1 | 1 | Oct 18, 2021 |
| SRD5A2 | 1 | Sep 27, 2018 |
| STAT3 | 1 | Sep 27, 2018 |
| STK11 | 3 | Oct 16, 2025 |
| STRC | 4 | Aug 5, 2019 |
| STUB1 | 2 | May 11, 2022 |
| SYCE2 | 1 | Jan 16, 2019 |
| SYNE1 | 2 | Jan 14, 2021 |
| SYNJ1 | 3 | Aug 22, 2023 |
| TAB2 | 1 | Dec 26, 2024 |
| TAOK1 | 1 | May 15, 2025 |
| TARID | 1 | Nov 11, 2018 |
| TBCEL-TECTA | 1 | Aug 22, 2023 |
| TBCK | 1 | Sep 27, 2018 |
| TCHH | 1 | Jan 16, 2019 |
| TCIRG1 | 4 | Jun 10, 2021 |
| TCTN1 | 1 | May 11, 2022 |
| TECTA | 1 | Aug 22, 2023 |
| TERC | 1 | Apr 29, 2021 |
| TERT | 1 | May 11, 2022 |
| TGFB2 | 1 | Sep 27, 2018 |
| TGFB3 | 1 | May 13, 2025 |
| TGM5 | 1 | May 13, 2025 |
| TMC1 | 3 | Jan 16, 2019 |
| TMEM127 | 1 | Apr 29, 2021 |
| TMPPE | 1 | Aug 22, 2018 |
| TNFAIP3 | 1 | Nov 8, 2022 |
| TRAF7 | 1 | Dec 26, 2024 |
| TRPM1 | 1 | Dec 24, 2018 |
| TRPS1 | 3 | Oct 16, 2025 |
| TSC1 | 1 | May 11, 2022 |
| TSC2 | 3 | Oct 18, 2021 |
| TSPAN12 | 1 | Jul 18, 2019 |
| TTBK2 | 1 | Jul 18, 2019 |
| TUBA1A | 1 | May 11, 2022 |
| TUBB | 1 | Jun 10, 2021 |
| TYR | 4 | Oct 18, 2021 |
| TYRP1 | 2 | Aug 22, 2023 |
| UMPS | 2 | May 13, 2025 |
| UROD | 1 | Oct 16, 2025 |
| USH2A | 3 | Aug 5, 2019 |
| VCP | 1 | Dec 24, 2018 |
| VPS13B | 2 | Aug 5, 2019 |
| VRK1 | 1 | Dec 24, 2018 |
| VWF | 1 | Feb 9, 2023 |
| WFS1 | 3 | Oct 18, 2021 |
| WT1 | 2 | Dec 24, 2018 |
| ZDHHC24 | 1 | Nov 11, 2018 |