NM_005391.5(PDK3):c.49G>C (p.Glu17Gln) AND Charcot-Marie-Tooth disease X-linked dominant 6
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001935934.6
Allele description [Variation Report for NM_005391.5(PDK3):c.49G>C (p.Glu17Gln)]
NM_005391.5(PDK3):c.49G>C (p.Glu17Gln)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024