Medical Genetics Laboratory (DeNA Laboratory)
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 29
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABHD14A-ACY1 | 1 | Mar 31, 2021 |
| ACER3 | 3 | Feb 16, 2021 |
| ACY1 | 1 | Mar 31, 2021 |
| ATP8A2 | 3 | Feb 7, 2020 |
| COLEC10 | 1 | Jan 12, 2021 |
| COQ8A | 1 | Feb 18, 2021 |
| EIF2B5 | 1 | Jun 30, 2020 |
| GAN | 1 | Feb 21, 2021 |
| LOC101927513 | 1 | Jan 12, 2021 |
| LOC126860480 | 1 | Jan 12, 2021 |
| MBOAT7 | 2 | Feb 4, 2020 |
| NAXE | 1 | May 19, 2020 |
| NLRP7 | 1 | Jul 8, 2023 |
| POMGNT1 | 1 | Nov 19, 2020 |
| SACS | 8 | May 21, 2021 |
| SPNS2 | 2 | Sep 8, 2022 |
| TOP6BL | 1 | Jul 8, 2023 |
| TSPAN1 | 1 | Nov 19, 2020 |
| ZNF335 | 2 | Oct 12, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 3MC syndrome 3 | 1 | Jan 12, 2021 |
| Alkaline ceramidase 3 deficiency | 3 | Feb 16, 2021 |
| Aminoacylase 1 deficiency | 2 | Oct 12, 2021 |
| Autosomal recessive ataxia due to ubiquinone deficiency | 1 | Feb 18, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 1 | Nov 19, 2020 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 3 | Feb 7, 2020 |
| Charlevoix-Saguenay spastic ataxia | 8 | May 21, 2021 |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | 1 | May 19, 2020 |
| Giant axonal neuropathy 1 | 1 | Feb 21, 2021 |
| Hydatidiform mole, recurrent, 1 | 1 | Jul 8, 2023 |
| Hydatidiform mole, recurrent, 4 | 1 | Jul 8, 2023 |
| Intellectual disability, autosomal recessive 57 | 2 | Feb 4, 2020 |
| Microcephalic primordial dwarfism due to ZNF335 deficiency | 1 | Mar 3, 2021 |
| Sensorineural hearing loss disorder | 2 | Sep 8, 2022 |
| Vanishing white matter disease | 1 | Jun 30, 2020 |