NM_017780.4(CHD7):c.6629del (p.Glu2210fs) AND CHD7-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003397748.4
Allele description [Variation Report for NM_017780.4(CHD7):c.6629del (p.Glu2210fs)]
NM_017780.4(CHD7):c.6629del (p.Glu2210fs)
Condition(s)
- Name:
- CHD7-related disorder
- Synonyms:
- CHD7-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 12, 2024