NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002493588.1
Allele description [Variation Report for NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val)]
NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val)
Condition(s)
- Name:
- Bethlem myopathy 1A
- Synonyms:
- Myopathy, benign congenital, with contractures; Bethlem myopathy 1
- Identifiers:
- MONDO: MONDO:0024530; MedGen: CN029274; Orphanet: 610; OMIM: 158810
Assertion and evidence details
Last Updated: May 1, 2024