NM_022455.5(NSD1):c.6464-5T>C AND Sotos syndrome
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Aug 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003231538.9
Allele description [Variation Report for NM_022455.5(NSD1):c.6464-5T>C]
NM_022455.5(NSD1):c.6464-5T>C
Condition(s)
- Name:
- Sotos syndrome (SOTOS)
- Synonyms:
- Sotos' syndrome; Cerebral gigantism; Distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0019349; MedGen: C0175695; Orphanet: 821; OMIM: 117550
Assertion and evidence details
Last Updated: Oct 26, 2024