NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) AND POLG-related disorder
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Nov 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003231103.10
Allele description [Variation Report for NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)]
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
Condition(s)
- Name:
- POLG-related disorder (PEOB)
- Synonyms:
- POLG-related condition; POLG- Related Disorder
- Identifiers:
- MedGen: CN180166
Assertion and evidence details
Last Updated: Jun 2, 2024