NM_004667.6(HERC2):c.11981A>C (p.Glu3994Ala) AND Developmental delay with autism spectrum disorder and gait instability
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001614480.2
Allele description [Variation Report for NM_004667.6(HERC2):c.11981A>C (p.Glu3994Ala)]
NM_004667.6(HERC2):c.11981A>C (p.Glu3994Ala)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023