| - GRCh37:
- ChrMT:7462
- GRCh38:
- ChrMT:7462
| MT-TS1 | | Cytochrome-c oxidase deficiency disease | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:7445
- GRCh38:
- ChrMT:7445
| MT-CO1, MT-TS1 | | Mitochondrial non-syndromic sensorineural hearing loss | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:961-962
- GRCh38:
- ChrMT:961-962
| MT-RNR1 | | Mitochondrial non-syndromic sensorineural hearing loss | Uncertain significance
(Jun 14, 2018) | no assertion criteria provided |
| - GRCh37:
- ChrMT:7465-7466
- GRCh38:
- ChrMT:7465-7466
| MT-TS1 | | Mitochondrial disease | Pathogenic
(Nov 14, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrMT:7505
- GRCh38:
- ChrMT:7505
| MT-TS1 | | Cytochrome-c oxidase deficiency disease | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:7443
- GRCh38:
- ChrMT:7443
| MT-CO1, MT-TS1 | | Mitochondrial non-syndromic sensorineural hearing loss | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:12201
- GRCh38:
- ChrMT:12201
| MT-TH | | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | Uncertain significance
(Jul 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:3388
- GRCh38:
- ChrMT:3388
| MT-ND1 | | Leigh syndrome | Benign
(Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:7444
- GRCh38:
- ChrMT:7444
| MT-CO1, MT-TS1 | | not provided, Leigh syndrome | Conflicting interpretations of pathogenicity
(Oct 23, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrMT:827
- GRCh38:
- ChrMT:827
| MT-RNR1 | | Gentamicin response | drug response
(Aug 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:961
- GRCh38:
- ChrMT:961
| MT-RNR1 | | not specified | Likely benign
(Feb 6, 2015) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:1494
- GRCh38:
- ChrMT:1494
| MT-RNR1, MT-TS1 | | Mitochondrial disease, kanamycin response - Toxicity, streptomycin response - Toxicity,
tobramycin response - Toxicity, aminoglycoside antibacterials response - Toxicity, gentamicin response - Toxicity
| Likely pathogenic; drug response
(Jul 11, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrMT:1095
- GRCh38:
- ChrMT:1095
| MT-RNR1 | | streptomycin response - Toxicity, aminoglycoside antibacterials response - Toxicity, kanamycin response - Toxicity,
gentamicin response - Toxicity | drug response
(Jun 15, 2021) | reviewed by expert panel |
| - GRCh37:
- ChrMT:1291
- GRCh38:
- ChrMT:1291
| MT-RNR1 | | not provided | Likely benign
(Aug 12, 2015) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:1555
- GRCh38:
- ChrMT:1555
| MT-ND1, MT-RNR1 | | Mitochondrial disease, streptomycin response - Toxicity, tobramycin response - Toxicity,
amikacin response - Toxicity, aminoglycoside antibacterials response - Toxicity, kanamycin response - Toxicity,
gentamicin response - Toxicity | Pathogenic; drug response
(Dec 15, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrMT:4295
- GRCh38:
- ChrMT:4295
| MT-TI | | not provided, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | Conflicting interpretations of pathogenicity
(Jul 12, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrMT:7445
- GRCh38:
- ChrMT:7445
| MT-CO1, MT-TS1 | | Mitochondrial non-syndromic sensorineural hearing loss | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrMT:7511
- GRCh38:
- ChrMT:7511
| MT-TS1 | | Mitochondrial disease | Likely pathogenic
(Nov 30, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrMT:7510
- GRCh38:
- ChrMT:7510
| MT-TS1 | | Mitochondrial disease | Likely pathogenic
(Mar 13, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- ChrMT:7445
- GRCh38:
- ChrMT:7445
| MT-CO1, MT-TS1 | | Mitochondrial disease | Pathogenic
(Aug 8, 2022) | reviewed by expert panel
FDA Recognized Database |