NM_003611.3(OFD1):c.1654+14T>A AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002487127.1
Allele description [Variation Report for NM_003611.3(OFD1):c.1654+14T>A]
NM_003611.3(OFD1):c.1654+14T>A
Condition(s)
- Name:
- Orofaciodigital syndrome I (OFD1)
- Synonyms:
- OFDS I; Orofaciodigital syndrome 1; OFD syndrome 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010702; MedGen: C1510460; Orphanet: 2750; OMIM: 311200
- Name:
- Retinitis pigmentosa 23 (RP23)
- Synonyms:
- RP 23
- Identifiers:
- MONDO: MONDO:0010320; MedGen: C1419610; Orphanet: 791; OMIM: 300424
Assertion and evidence details
Last Updated: Mar 10, 2024