Molecular Diagnostics Laboratory (Catalan Institute of Oncology), MDL-HCP
General information
Molecular Diagnostics Laboratory, MDL-HCP
Catalan Institute of Oncology
Gran Via de l'Hospitalet, 199
l'Hospitalet del Llobregat
Catalonia
Spain - 08908
http://ico.gencat.cat/
Organization ID: 508416
Catalan Institute of Oncology
Gran Via de l'Hospitalet, 199
l'Hospitalet del Llobregat
Catalonia
Spain - 08908
http://ico.gencat.cat/
Organization ID: 508416
Personnel
- Guillem Campo, Informatics staff
Phone: +34932607733 ext 3786
Email: gcampof@idibell.cat - Lidia Feliubadaló, Variant scientist/curator
Phone: +34609278540
Email: lfeliubadalo@iconcologia.net - Paula Rofes, Staff
Phone: +34610024302
Email: profes@iconcologia.net
Assertion criteria
Level: Assertion criteria provided
- ACMG Guidelines, 2015
- ClinGen ACMG Specifications APC V1.0.0
- ClinGen ACMG Specifications APC V1.0.0
- ClinGen ACMG Specifications ATM V1.1.0
- ClinGen ACMG Specifications ATM V1.1.0
- ClinGen ACMG Specifications PALB2 V1.0.0
- ClinGen ACMG Specifications PALB2 V1.0.0
- ClinGen ACMG Specifications PALB2 V1.1.0
- ClinGen ACMG Specifications PTEN V3.0.0
- ClinGen BRCA1BRCA2 ACMG Specifications BRCA1 V1.0.0
- ClinGen BRCA1BRCA2 ACMG Specifications BRCA2 V1.0.0
- ClinGen BRCA1BRCA2 ACMG Specifications BRCA2 V1.0.0
- ClinGen CDH1 ACMG Specifications CDH1 V3.1.0
- ClinGen CRC ACMG Specifications MLH1 V1.0.0
- ClinGen CRC ACMG Specifications MSH2 V1.0.0
- ClinGen CRC ACMG Specifications MSH6 V1.0.0
- ClinGen CRC ACMG Specifications MSH6 V1.0.0
- ClinGen CRC ACMG Specifications PMS2 V1.0.0
- ClinGen TP53 ACMG Specifications TP53 V1.4.0
- ClinGen TP53 ACMG Specifications TP53 V2.2.0
- ClinGen TP53 ACMG Specifications TP53 V2.3.0
- Fortuno et al. (Hum Mutat. 2021)
- Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel
- MMR VCEP Paper Draft V3.1
- Submitter's publication
Summary of submissions to ClinVar
Total submissions: 1026
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AOPEP | 2 | Sep 15, 2025 |
| APC | 36 | Dec 2, 2025 |
| ATM | 100 | Dec 2, 2025 |
| AXIN2 | 5 | Sep 15, 2025 |
| BAP1 | 6 | Sep 15, 2025 |
| BARD1 | 21 | Dec 2, 2025 |
| BLM | 3 | Sep 15, 2025 |
| BMPR1A | 5 | Sep 15, 2025 |
| BRCA1 | 92 | Sep 15, 2025 |
| BRCA2 | 162 | Dec 2, 2025 |
| BRIP1 | 38 | Sep 15, 2025 |
| C11orf65 | 35 | Dec 2, 2025 |
| CBL | 3 | Apr 24, 2025 |
| CDC73 | 1 | Apr 24, 2025 |
| CDH1 | 6 | Sep 15, 2025 |
| CDKN1B | 1 | Sep 15, 2025 |
| CDKN2A | 4 | Sep 15, 2025 |
| CHEK2 | 41 | May 21, 2026 |
| CTNNA1 | 1 | Mar 28, 2025 |
| CYLD | 1 | Mar 28, 2025 |
| DICER1 | 1 | Sep 15, 2025 |
| EPCAM | 2 | Dec 2, 2025 |
| ERCC2 | 2 | Sep 15, 2025 |
| ERCC3 | 1 | Mar 28, 2025 |
| ERCC4 | 7 | Mar 28, 2025 |
| FANCA | 3 | Sep 15, 2025 |
| FANCB | 1 | Sep 15, 2025 |
| FANCC | 3 | Sep 15, 2025 |
| FANCD2 | 8 | Sep 15, 2025 |
| FANCD2OS | 1 | Sep 15, 2025 |
| FANCE | 1 | Mar 28, 2025 |
| FANCF | 2 | Sep 15, 2025 |
| FANCI | 1 | Mar 28, 2025 |
| FANCM | 4 | Mar 28, 2025 |
| FH | 5 | Sep 15, 2025 |
| FLCN | 9 | Sep 15, 2025 |
| KIF1B | 7 | Sep 15, 2025 |
| KIT | 1 | Mar 28, 2025 |
| LOC107303338 | 5 | Sep 15, 2025 |
| LOC107303340 | 2 | Mar 28, 2025 |
| LOC126862571 | 12 | Sep 15, 2025 |
| LOC129390903 | 1 | Mar 28, 2025 |
| LOC130006895 | 1 | Apr 24, 2025 |
| LOC130062899 | 2 | Sep 15, 2025 |
| MEN1 | 3 | Sep 15, 2025 |
| MET | 3 | Sep 15, 2025 |
| MITF | 1 | Sep 15, 2025 |
| MLH1 | 56 | Sep 15, 2025 |
| MSH2 | 48 | Sep 15, 2025 |
| MSH6 | 81 | Dec 2, 2025 |
| MUTYH | 20 | Sep 15, 2025 |
| NF1 | 5 | Sep 15, 2025 |
| NTHL1 | 7 | Sep 15, 2025 |
| PALB2 | 38 | Dec 2, 2025 |
| PMS2 | 16 | Sep 15, 2025 |
| POLD1 | 11 | Sep 15, 2025 |
| POLE | 10 | Sep 15, 2025 |
| PPM1D | 2 | Sep 15, 2025 |
| PTEN | 4 | Mar 28, 2025 |
| PTPN11 | 3 | Mar 28, 2025 |
| RAD50 | 1 | Sep 15, 2025 |
| RAD51 | 1 | Sep 15, 2025 |
| RAD51C | 18 | May 21, 2026 |
| RAD51D | 18 | Sep 15, 2025 |
| RAD51L3-RFFL | 18 | Sep 15, 2025 |
| RB1 | 2 | Sep 15, 2025 |
| RET | 5 | Sep 15, 2025 |
| RNF43 | 6 | Sep 15, 2025 |
| SBDS | 2 | Sep 15, 2025 |
| SDHA | 5 | Sep 15, 2025 |
| SDHB | 2 | Mar 28, 2025 |
| SDHC | 1 | Sep 15, 2025 |
| SDHD | 3 | Apr 24, 2025 |
| SLX4 | 7 | Sep 15, 2025 |
| SMAD4 | 4 | Apr 24, 2025 |
| SMARCA4 | 3 | Sep 15, 2025 |
| STK11 | 8 | Sep 15, 2025 |
| TP53 | 42 | Sep 15, 2025 |
| TSC2 | 4 | Sep 15, 2025 |
| VHL | 2 | Mar 28, 2025 |
| XPC | 1 | Sep 15, 2025 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cowden syndrome 1 | 1 | Jan 13, 2022 |
| Hereditary cancer-predisposing syndrome | 1025 | May 21, 2026 |