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 |