NM_003640.5(ELP1):c.2908T>C (p.Leu970=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002495768.1
Allele description [Variation Report for NM_003640.5(ELP1):c.2908T>C (p.Leu970=)]
NM_003640.5(ELP1):c.2908T>C (p.Leu970=)
Condition(s)
- Name:
- Medulloblastoma (MDB)
- Synonyms:
- Medulloblastoma, somatic; MEDULLOBLASTOMA PREDISPOSITION SYNDROME
- Identifiers:
- MONDO: MONDO:0007959; MeSH: D008527; MedGen: C0025149; Orphanet: 616; OMIM: 155255; Human Phenotype Ontology: HP:0002885
- Name:
- Familial dysautonomia (HSAN3)
- Synonyms:
- NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN III; Hereditary sensory and autonomic neuropathy 3; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009131; MedGen: C0013364; Orphanet: 1764; OMIM: 223900
Assertion and evidence details
Last Updated: Feb 20, 2024