Clinical Genetics Laboratory (Skane University Hospital Lund), Clinical_Genetics
General information
Personnel
- Hans Ehrencrona, Medical Director
Phone: +4646176372
Email: hans.ehrencrona@skane.se - Tord Jonson, Variant scientist/curator
Phone: +4646171000
Email: tord.jonson@skane.se - Sofie Samuelsson, Variant scientist/curator
Phone: +4646171000
Email: sofie.samuelsson@skane.se
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 13
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss 1A | 1 | Jun 20, 2023 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 1 | Sep 6, 2023 |
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 2 | Sep 5, 2023 |
| Developmental and epileptic encephalopathy, 19 | 1 | May 10, 2023 |
| HTRA1-related autosomal dominant cerebral small vessel disease | 1 | Aug 25, 2023 |
| Hypertrophic cardiomyopathy | 1 | Dec 16, 2019 |
| Hypertrophic cardiomyopathy 1 | 1 | Jun 16, 2023 |
| Lissencephaly | 1 | May 26, 2021 |
| Lynch syndrome | 1 | Aug 11, 2023 |
| Noonan syndrome 7 | 1 | Jun 16, 2023 |
| Recurrent fever | 1 | Sep 6, 2023 |
| Williams syndrome | 1 | Jun 16, 2023 |