NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 31, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000330520.2
Allele description [Variation Report for NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter)]
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Mar 30, 2024