NM_001378615.1(CC2D2A):c.686A>G (p.Glu229Gly) AND CC2D2A-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 2, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004542685.1
Allele description [Variation Report for NM_001378615.1(CC2D2A):c.686A>G (p.Glu229Gly)]
NM_001378615.1(CC2D2A):c.686A>G (p.Glu229Gly)
Condition(s)
- Name:
- CC2D2A-related disorder
- Synonyms:
- CC2D2A-Related Disorders; CC2D2A-related condition
- Identifiers:
- MedGen: CN239313
Assertion and evidence details
Last Updated: Sep 29, 2024