NR_003051.3(RMRP):n.-21A>C AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002477825.8
Allele description [Variation Report for NR_003051.3(RMRP):n.-21A>C]
NR_003051.3(RMRP):n.-21A>C
Condition(s)
- Name:
- Anauxetic dysplasia 1 (ANXD1)
- Synonyms:
- Spondylometaepiphyseal dysplasia Anauxetic type; Spondylometaepiphyseal dysplasia Menger type
- Identifiers:
- MONDO: MONDO:0054560; MedGen: C4551965; Orphanet: 93347; OMIM: 607095
Assertion and evidence details
Last Updated: Jun 23, 2024