Baylor-Hopkins Center for Mendelian Genomics (Johns Hopkins University), BHCMG-JH
General information
Personnel
- David Valle, Principal Investigator
Phone: 4109554260
Email: dvalle@jhmi.edu - Elizabeth Wohler, Staff
Phone: 4432871104
Email: esquibb1@jhmi.edu
Assertion criteria
Level: Assertion criteria provided
- ACMG Guidelines, 2015
- Gould et al., Nature Genet 2019
- Submitter's publication
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Summary of submissions to ClinVar
Total submissions: 201
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACTG1 | 1 | Apr 26, 2019 |
| ALMS1 | 5 | Sep 15, 2015 |
| ASIC4-AS1 | 1 | Nov 15, 2017 |
| BSND | 2 | May 20, 2019 |
| CA12 | 2 | May 12, 2020 |
| CABP2 | 1 | Apr 26, 2019 |
| CDKN2A | 2 | Nov 28, 2022 |
| CHD7 | 1 | Apr 26, 2019 |
| CLDN9 | 1 | Apr 7, 2020 |
| COL2A1 | 1 | Mar 28, 2016 |
| COL6A1 | 1 | May 25, 2020 |
| CYP27A1 | 1 | Nov 15, 2017 |
| DDX41 | 1 | Mar 16, 2017 |
| DNAJB6 | 1 | May 12, 2020 |
| DNMT3B | 1 | Jul 12, 2017 |
| ELP4 | 1 | Apr 26, 2019 |
| ERBB3 | 1 | Aug 19, 2016 |
| ESRRB | 1 | Apr 26, 2019 |
| EXT2 | 1 | May 25, 2020 |
| FBN1 | 1 | May 25, 2020 |
| FGF3 | 1 | Apr 26, 2019 |
| FN1 | 1 | Apr 26, 2019 |
| GHR | 1 | Mar 6, 2020 |
| GJB2 | 4 | May 20, 2019 |
| GMPPA | 1 | Nov 15, 2017 |
| GNAI2 | 1 | Mar 6, 2020 |
| HCFC1 | 1 | Jul 12, 2017 |
| HIF1A | 7 | Nov 28, 2022 |
| HIF1A-AS3 | 7 | Nov 28, 2022 |
| HNRNPK | 1 | Mar 28, 2016 |
| HNRNPK-AS1 | 1 | Mar 28, 2016 |
| IDH1 | 2 | Nov 28, 2022 |
| IDH2 | 2 | Nov 28, 2022 |
| ITPR1 | 1 | Sep 22, 2017 |
| JUP | 1 | May 25, 2020 |
| KDM4C | 3 | Nov 28, 2022 |
| KMT2A | 2 | Jul 12, 2017 |
| KMT2B | 1 | Jul 12, 2017 |
| KMT2D | 13 | May 20, 2019 |
| KRAS | 1 | Mar 6, 2020 |
| LBR | 4 | May 12, 2020 |
| LOC107303340 | 2 | Nov 28, 2022 |
| LOC126806932 | 2 | Sep 15, 2015 |
| LOC126861898 | 1 | May 25, 2020 |
| LZTR1 | 4 | May 20, 2019 |
| MBTPS1 | 1 | Feb 17, 2020 |
| MSRB3 | 1 | Apr 26, 2019 |
| MVP-DT | 1 | Oct 10, 2017 |
| MYBPC3 | 1 | May 25, 2020 |
| MYH14 | 1 | Apr 26, 2019 |
| MYH7 | 1 | May 25, 2020 |
| MYO7A | 2 | Apr 26, 2019 |
| NCSTN | 1 | Mar 28, 2016 |
| NFIX | 1 | May 25, 2020 |
| NHLH1 | 1 | Mar 28, 2016 |
| NIPBL | 1 | Apr 26, 2019 |
| NOD2 | 3 | May 20, 2019 |
| NOTCH3 | 5 | Mar 28, 2016 |
| OCA2 | 3 | May 20, 2019 |
| OTOA | 1 | Apr 26, 2019 |
| OTOF | 4 | May 20, 2019 |
| PAX6 | 1 | Apr 26, 2019 |
| PCYT1A | 8 | Sep 15, 2015 |
| PER2 | 2 | May 20, 2019 |
| PGM1 | 1 | Mar 3, 2020 |
| PIEZO2 | 1 | May 12, 2020 |
| PLEC | 6 | May 20, 2019 |
| PNPT1 | 2 | Mar 16, 2017 |
| PRRT2 | 1 | Oct 10, 2017 |
| RAB23 | 1 | Apr 26, 2019 |
| RARS1 | 3 | Nov 15, 2017 |
| RBM20 | 2 | May 20, 2019 |
| RDX | 1 | Apr 26, 2019 |
| ROBO4 | 12 | Jan 22, 2019 |
| RPS6KA3 | 1 | May 12, 2020 |
| SCN5A | 6 | Mar 16, 2017 |
| SERPINF1 | 1 | Mar 28, 2016 |
| SIX1 | 1 | May 25, 2020 |
| SKI | 9 | Sep 15, 2015 |
| SLC26A4 | 3 | May 20, 2019 |
| SMARCB1 | 1 | May 20, 2019 |
| SMC3 | 1 | Apr 26, 2019 |
| SNAP29 | 1 | Mar 28, 2016 |
| STAC3 | 1 | Nov 8, 2017 |
| TAF1 | 1 | Apr 26, 2019 |
| TELO2 | 6 | Aug 19, 2016 |
| TENM3 | 1 | Apr 26, 2019 |
| TGFB2 | 8 | Sep 15, 2015 |
| TMC1 | 2 | May 20, 2019 |
| TYR | 1 | May 20, 2019 |
| USH2A | 2 | Mar 6, 2020 |
| VHL | 5 | Nov 28, 2022 |
| VPS33B | 1 | May 25, 2020 |
| VPS37A | 1 | Mar 30, 2018 |
| ZBTB24 | 1 | Jul 12, 2017 |
| ZDBF2 | 1 | Mar 16, 2017 |
| ZNF407 | 1 | Aug 13, 2019 |