| - GRCh37:
- Chr12:108961746
- GRCh38:
- Chr12:108567970
| ISCU | | Hereditary myopathy with lactic acidosis due to ISCU deficiency | Uncertain significance
(Sep 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:108962672
- GRCh38:
- Chr12:108568896
| ISCU | G137*, G162* | Hereditary myopathy with lactic acidosis due to ISCU deficiency | Uncertain significance
(Jan 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:108960991-108960992
- GRCh38:
- Chr12:108567215-108567216
| ISCU | T123fs, T98fs | Hereditary myopathy with lactic acidosis due to ISCU deficiency | Uncertain significance
(Jan 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:108959182
- GRCh38:
- Chr12:108565406
| ISCU | A105G, A80G | Hereditary myopathy with lactic acidosis due to ISCU deficiency, not provided | Uncertain significance
(Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:108962445
- GRCh38:
- Chr12:108568669
| ISCU | | not provided, Hereditary myopathy with lactic acidosis due to ISCU deficiency | Benign/Likely benign
(Oct 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:108956417
- GRCh38:
- Chr12:108562641
| ISCU | F7V | not provided, Hereditary myopathy with lactic acidosis due to ISCU deficiency | Benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:108956433
- GRCh38:
- Chr12:108562657
| ISCU | A12V | not provided, Hereditary myopathy with lactic acidosis due to ISCU deficiency | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:108956418
- GRCh38:
- Chr12:108562642
| ISCU | F7C | Hereditary myopathy with lactic acidosis due to ISCU deficiency, not provided | Benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:108956417-108956418
- GRCh38:
- Chr12:108562641-108562642
| ISCU | F7G | Hereditary myopathy with lactic acidosis due to ISCU deficiency, not provided | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:108961426
- GRCh38:
- Chr12:108567650
| ISCU | | not provided, Hereditary myopathy with lactic acidosis due to ISCU deficiency | Pathogenic
(Dec 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:108956408
- GRCh38:
- Chr12:108562632
| ISCU | A4P | Hereditary myopathy with lactic acidosis due to ISCU deficiency, not provided | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:108956526-108956527
- GRCh38:
- Chr12:108562750-108562751
| ISCU, LOC130008688 | | Hereditary myopathy with lactic acidosis due to ISCU deficiency, not provided | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:108958089
- GRCh38:
- Chr12:108564313
| ISCU | G50E, G25E | Hereditary myopathy with lactic acidosis due to ISCU deficiency | Pathogenic
(Aug 1, 2009) | no assertion criteria provided |