Laboratory of Human Genetics (Universidade de São Paulo), LHG
General information
Personnel
- Ana Krepischi, Principal Investigator
Phone: 5511996796011
Email: ana.krepischi@ib.usp.br - Carla Rosenberg, Principal Investigator
Phone: 5511996796011
Email: carlarosenberg@uol.com.br
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 134
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ADK | 1 | Jan 7, 2026 |
| AHDC1 | 13 | Sep 5, 2024 |
| ANKRD11 | 2 | Jun 2, 2022 |
| AP4S1 | 1 | Jan 7, 2026 |
| ARID1B | 1 | Jan 7, 2026 |
| ASNS | 1 | May 16, 2022 |
| BCKDK | 1 | Jun 2, 2022 |
| BRAT1 | 2 | Jun 2, 2022 |
| BRWD3 | 1 | Jan 20, 2022 |
| BSND | 1 | Aug 28, 2024 |
| C10orf105 | 1 | Aug 28, 2024 |
| CABP2 | 1 | Aug 28, 2024 |
| CASK | 2 | Jun 27, 2022 |
| CCDC47 | 1 | Jun 2, 2022 |
| CDH23 | 3 | Aug 28, 2024 |
| CEACAM16 | 1 | Aug 28, 2024 |
| CEACAM16-AS1 | 1 | Aug 28, 2024 |
| CIB2 | 1 | Aug 28, 2024 |
| CLDN14 | 1 | Aug 28, 2024 |
| CLDN14-AS1 | 1 | Aug 28, 2024 |
| CTNNB1 | 1 | May 5, 2022 |
| CYP1B1 | 1 | Jul 2, 2020 |
| CZ1P-ASNS | 1 | May 16, 2022 |
| DDX3X | 2 | May 5, 2022 |
| DIP2B | 1 | Oct 22, 2020 |
| DOCK7 | 1 | Jan 7, 2026 |
| DYNC1H1 | 1 | Jun 2, 2022 |
| EDNRB | 1 | Oct 30, 2017 |
| EDNRB-AS1 | 1 | Oct 30, 2017 |
| EHMT1 | 1 | Jan 20, 2022 |
| EHMT2 | 1 | Mar 13, 2026 |
| FGFR1 | 1 | Jun 27, 2022 |
| FGFR3 | 1 | Aug 28, 2024 |
| GATA6 | 1 | Jun 2, 2022 |
| GJB2 | 2 | Aug 19, 2024 |
| GRIA3 | 1 | Jan 20, 2022 |
| JAG1 | 1 | Apr 8, 2024 |
| KARS1 | 1 | Aug 28, 2024 |
| KCNB1 | 1 | May 5, 2022 |
| KCNT1 | 1 | Mar 30, 2023 |
| KDM5C | 1 | Jun 20, 2019 |
| KIF7 | 1 | Jan 7, 2026 |
| KNL1 | 2 | Jun 27, 2022 |
| LDLR | 1 | Oct 22, 2020 |
| LHFPL5 | 1 | Aug 28, 2024 |
| LOC111982869 | 1 | Aug 28, 2024 |
| LOC126806659 | 1 | May 5, 2022 |
| LOC126862060 | 1 | Jun 2, 2022 |
| LZTR1 | 1 | Jun 27, 2022 |
| MAN1B1 | 1 | Jan 7, 2026 |
| MCPH1 | 1 | May 16, 2022 |
| MED13L | 2 | Jan 28, 2021 |
| MITF | 2 | Oct 30, 2017 |
| MPZL2 | 1 | Aug 28, 2024 |
| MTFMT | 1 | Jan 7, 2026 |
| MYO15A | 3 | Aug 28, 2024 |
| MYO1H | 1 | Jan 7, 2026 |
| MYO7A | 1 | Aug 28, 2024 |
| MYT1L | 1 | Mar 18, 2021 |
| NDP | 1 | Jun 27, 2022 |
| NDP-AS1 | 1 | Jun 27, 2022 |
| OTOF | 2 | Aug 28, 2024 |
| OTOG | 2 | Aug 28, 2024 |
| P2RX2 | 1 | Aug 28, 2024 |
| PAX3 | 9 | Oct 30, 2017 |
| PCNA | 1 | Jan 7, 2026 |
| PDHA1 | 1 | May 5, 2022 |
| PDZD7 | 2 | Aug 28, 2024 |
| POLR2F | 4 | Oct 30, 2017 |
| PPP2CA | 1 | May 16, 2022 |
| PTPRQ | 1 | Aug 28, 2024 |
| PUF60 | 1 | Jan 7, 2026 |
| QRICH1 | 1 | Jan 7, 2026 |
| RORA | 1 | Jul 2, 2020 |
| RORA-AS1 | 1 | Jul 2, 2020 |
| SALL4 | 1 | Nov 10, 2015 |
| SCAF4 | 1 | Jan 20, 2022 |
| SETD1A | 1 | Jan 20, 2022 |
| SHH | 1 | Jan 20, 2022 |
| SIX1 | 1 | Aug 28, 2024 |
| SLC2A1 | 1 | May 16, 2022 |
| SNX14 | 1 | Jan 7, 2026 |
| SOX10 | 4 | Oct 30, 2017 |
| SRCAP | 1 | Jun 2, 2022 |
| TMC1 | 2 | Aug 28, 2024 |
| TMPRSS3 | 1 | Aug 28, 2024 |
| TP53 | 1 | Feb 9, 2026 |
| TP53BP1 | 1 | Jun 27, 2022 |
| TP63 | 1 | Aug 24, 2015 |
| TRAPPC6A | 1 | Dec 18, 2025 |
| TRIO | 1 | May 16, 2022 |
| TRIOBP | 1 | Aug 28, 2024 |
| TUBGCP4 | 2 | Jun 27, 2022 |
| UBE3B | 1 | May 16, 2022 |
| USH1G | 1 | Aug 28, 2024 |
| USH2A | 3 | Aug 28, 2024 |
| WAPL | 1 | Dec 18, 2025 |
| WDR45 | 1 | May 5, 2022 |
| YY1 | 4 | Nov 18, 2025 |