NM_014319.5(LEMD3):c.1808_1812del (p.Thr603fs) AND Dermatofibrosis lenticularis disseminata
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001814821.4
Allele description [Variation Report for NM_014319.5(LEMD3):c.1808_1812del (p.Thr603fs)]
NM_014319.5(LEMD3):c.1808_1812del (p.Thr603fs)
Condition(s)
- Name:
- Dermatofibrosis lenticularis disseminata (BOS)
- Synonyms:
- Dermatoosteopoikilosis; Dermatofibrosis, disseminated with osteopoikilosis; Dermatofibrosis lenticularis disseminata with osteopoikilosis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008157; MedGen: C0265514; Orphanet: 1306; OMIM: 166700
Assertion and evidence details
Last Updated: Feb 28, 2024