NM_003611.3(OFD1):c.935+4A>G AND Orofaciodigital syndrome I
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 14, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001333141.1
Allele description [Variation Report for NM_003611.3(OFD1):c.935+4A>G]
NM_003611.3(OFD1):c.935+4A>G
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
Assertion and evidence details
Last Updated: Sep 29, 2024