NM_015713.5(RRM2B):c.*2809G>A AND Mitochondrial DNA depletion syndrome 8a
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000331912.5
Allele description [Variation Report for NM_015713.5(RRM2B):c.*2809G>A]
NM_015713.5(RRM2B):c.*2809G>A
Condition(s)
- Name:
- Mitochondrial DNA depletion syndrome 8a
- Synonyms:
- MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE; Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy
- Identifiers:
- MONDO: MONDO:0012792; MedGen: C2749861; OMIM: 612075
Assertion and evidence details
Last Updated: Apr 9, 2023