NM_000193.4(SHH):c.300+17G>A AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002480287.8
Allele description [Variation Report for NM_000193.4(SHH):c.300+17G>A]
NM_000193.4(SHH):c.300+17G>A
Condition(s)
- Name:
- Holoprosencephaly 3 (HPE3)
- Identifiers:
- MONDO: MONDO:0007733; MedGen: C1840529; Orphanet: 2162; OMIM: 142945
- Name:
- Microphthalmia, isolated, with coloboma 5 (MCOPCB5)
- Synonyms:
- Microphthalmia with Coloboma 5; MICROPHTHALMIA/COLOBOMA 5
- Identifiers:
- MONDO: MONDO:0012709; MedGen: C1968843; Orphanet: 98938; OMIM: 611638
- Name:
- Solitary median maxillary central incisor syndrome
- Synonyms:
- Solitary median maxillary central incisor; Fused incisors; SMMCI SYNDROME; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007819; MedGen: C1840235; OMIM: 147250; Human Phenotype Ontology: HP:0006315
- Name:
- Schizencephaly
- Identifiers:
- MONDO: MONDO:0010011; MedGen: C0266484; Orphanet: 799; OMIM: 269160; Human Phenotype Ontology: HP:0010636
Assertion and evidence details
Last Updated: May 12, 2024