Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
MGZ Medical Genetics Center | RCV000993793 | SCV001146967 | pathogenic | Cerebellar ataxia; Gonadal dysgenesis; Progressive spastic paraparesis; Abnormal basal ganglia MRI signal intensity | 2019-12-09 | criteria provided, single submitter | clinical testing | heteroplasmic 35% in blood sample, haplogroup J1b1a1, PS2+PM2+PM7+PM8+PM9 (Modified ACMG Guidelines Mito Lab Baylor College), variant present in a patient together with m.9049G>A. Variant was published in several independant cases (PMID: 23847141, PMID: 17266923). |
Mendelics | RCV002249599 | SCV002517690 | pathogenic | Mitochondrial disease | 2022-05-04 | criteria provided, single submitter | clinical testing |