Department Of Human Genetics, Institute Of Clinical And Translational Research (Biomedical Research Center, Slovak Academy Of Sciences)
General information
Department Of Human Genetics, Institute Of Clinical And Translational Research
Biomedical Research Center, Slovak Academy Of Sciences
Dubravska cesta 9
Bratislava
Slovakia - 84505
http://www.biomedcentrum.sav.sk/?lang=en
Organization ID: 509174
Biomedical Research Center, Slovak Academy Of Sciences
Dubravska cesta 9
Bratislava
Slovakia - 84505
http://www.biomedcentrum.sav.sk/?lang=en
Organization ID: 509174
Personnel
- Natalia Forgacova, Staff
Phone: +421908597826
Email: [email protected] - Ingrid Lojova, Staff
Phone: +421918171608
Email: [email protected] - Zuzana Pos, Principal Investigator
Phone: +421944213588
Email: [email protected] - Jan Radvanszky, Principal Investigator
Phone: +421905917111
Email: [email protected] - Andrea Soltysova, Principal Investigator
Phone: +421290142049
Email: [email protected] - Andrea Zatkova, Principal Investigator
Phone: +421911466599
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 240
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Alkaptonuria | 212 | Dec 18, 2023 |
| Apolipoprotein c-III deficiency | 1 | Mar 7, 2024 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 1 | Dec 18, 2023 |
| Congenital myotonia, autosomal dominant form | 16 | Mar 23, 2024 |
| Congenital myotonia, autosomal recessive form | 23 | Mar 23, 2024 |
| Genitopatellar syndrome | 1 | Dec 18, 2023 |
| Hypoalphalipoproteinemia, primary, 1 | 1 | Dec 18, 2023 |
| Periventricular nodular heterotopia 7 | 1 | Dec 18, 2023 |
| Pontocerebellar hypoplasia type 1B | 1 | Dec 18, 2023 |