ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel (ClinGen)
FDA Recognized Database
General information
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50027/
Organization ID: 507881
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50027/
Organization ID: 507881
Personnel
- Elizabeth McCormick, Genetic Counselor
Phone: 267-426-4961
Email: mccormicke@email.chop.edu
Assertion criteria
Level: Expert Panel
Summary of submissions to ClinVar
Total submissions: 199
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ETHE1 | 18 | Dec 17, 2021 |
| FANCI | 4 | Nov 1, 2021 |
| LOC130064595 | 1 | May 18, 2021 |
| MT-ATP6 | 21 | Aug 3, 2023 |
| MT-ATP8 | 3 | Jun 30, 2022 |
| MT-CO1 | 9 | Mar 20, 2024 |
| MT-CO2 | 3 | Aug 3, 2023 |
| MT-CO3 | 3 | Mar 20, 2024 |
| MT-CYB | 7 | Mar 20, 2024 |
| MT-ND1 | 12 | Aug 3, 2023 |
| MT-ND2 | 5 | Mar 20, 2024 |
| MT-ND3 | 6 | Mar 20, 2024 |
| MT-ND4 | 3 | Jun 30, 2022 |
| MT-ND4L | 2 | Mar 13, 2023 |
| MT-ND5 | 12 | Mar 20, 2024 |
| MT-ND6 | 10 | Mar 20, 2024 |
| MT-RNR1 | 2 | Mar 13, 2023 |
| MT-TA | 3 | Mar 20, 2024 |
| MT-TC | 2 | Aug 3, 2023 |
| MT-TD | 1 | May 18, 2021 |
| MT-TE | 3 | Apr 3, 2023 |
| MT-TF | 2 | Mar 13, 2023 |
| MT-TG | 3 | Mar 13, 2023 |
| MT-TH | 3 | Aug 3, 2023 |
| MT-TI | 5 | Mar 20, 2024 |
| MT-TK | 6 | Apr 3, 2023 |
| MT-TL1 | 8 | Aug 3, 2023 |
| MT-TL2 | 5 | Apr 3, 2023 |
| MT-TM | 2 | Apr 3, 2023 |
| MT-TN | 4 | Apr 3, 2023 |
| MT-TP | 1 | Apr 3, 2023 |
| MT-TQ | 2 | Apr 3, 2023 |
| MT-TR | 2 | Dec 17, 2021 |
| MT-TS1 | 10 | Aug 3, 2023 |
| MT-TS2 | 5 | Mar 20, 2024 |
| MT-TV | 4 | Mar 20, 2024 |
| MT-TW | 4 | Oct 12, 2022 |
| MT-TY | 1 | May 18, 2021 |
| PDHA1 | 9 | Dec 17, 2021 |
| POLG | 30 | Nov 1, 2021 |
| POLGARF | 30 | Nov 1, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Ethylmalonic encephalopathy | 18 | Dec 17, 2021 |
| Mitochondrial disease | 172 | Mar 20, 2024 |
| Pyruvate dehydrogenase complex deficiency | 9 | Dec 17, 2021 |