NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) AND multiple conditions
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 26, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000524562.16
Allele description [Variation Report for NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)]
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)
Condition(s)
- Name:
- Cenani-Lenz syndactyly syndrome
- Synonyms:
- SYNDACTYLY, TYPE VII; Syndactyly Cenani Lenz type; Cenani syndactylism; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008931; MedGen: C1859309; Orphanet: 3258; OMIM: 212780
Assertion and evidence details
Last Updated: Mar 16, 2024