NM_003036.4(SKI):c.1109T>C (p.Val370Ala) AND Shprintzen-Goldberg syndrome
- Germline classification:
- Conflicting classifications of pathogenicity (3 submissions)
- Last evaluated:
- Aug 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001857959.7
Allele description [Variation Report for NM_003036.4(SKI):c.1109T>C (p.Val370Ala)]
NM_003036.4(SKI):c.1109T>C (p.Val370Ala)
Condition(s)
- Name:
- Shprintzen-Goldberg syndrome (SGS)
- Synonyms:
- SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; CRANIOSYNOSTOSIS WITH ARACHNODACTYLY AND ABDOMINAL HERNIAS; Marfanoid disorder with craniosynostosis type 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008426; MedGen: C1321551; Orphanet: 2462; OMIM: 182212
Assertion and evidence details
Last Updated: Feb 8, 2025