NM_001001557.4(GDF6):c.749G>C (p.Arg250Pro) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002998905.3
Allele description [Variation Report for NM_001001557.4(GDF6):c.749G>C (p.Arg250Pro)]
NM_001001557.4(GDF6):c.749G>C (p.Arg250Pro)
Condition(s)
- Name:
- Klippel-Feil syndrome 1, autosomal dominant (KFS1)
- Synonyms:
- CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT
- Identifiers:
- MONDO: MONDO:0007306; MedGen: C1861689; Orphanet: 2345; OMIM: 118100
- Name:
- Isolated microphthalmia 4
- Identifiers:
- MONDO: MONDO:0013130; MedGen: C2751307; Orphanet: 2542; OMIM: 613094
Assertion and evidence details
Last Updated: Sep 29, 2024