NM_024596.5(MCPH1):c.2378C>G (p.Ala793Gly) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002001150.2
Allele description [Variation Report for NM_024596.5(MCPH1):c.2378C>G (p.Ala793Gly)]
NM_024596.5(MCPH1):c.2378C>G (p.Ala793Gly)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Dec 24, 2023