NM_017780.4(CHD7):c.7647dup (p.Glu2550fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 13, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000482479.1
Allele description [Variation Report for NM_017780.4(CHD7):c.7647dup (p.Glu2550fs)]
NM_017780.4(CHD7):c.7647dup (p.Glu2550fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Apr 23, 2022