NM_033409.4(SLC52A3):c.1278C>T (p.Arg426=) AND Brown-Vialetto-van Laere syndrome 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 21, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000552024.9
Allele description [Variation Report for NM_033409.4(SLC52A3):c.1278C>T (p.Arg426=)]
NM_033409.4(SLC52A3):c.1278C>T (p.Arg426=)
Condition(s)
- Name:
- Brown-Vialetto-van Laere syndrome 1
- Synonyms:
- BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS; PONTOBULBAR PALSY WITH DEAFNESS; Pontobulbar palsy and neurosensory deafness; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0024537; MedGen: C0796274; Orphanet: 97229; OMIM: 211530
Assertion and evidence details
Last Updated: Feb 28, 2024