NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs) AND LAMA2-related muscular dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000533416.8
Allele description [Variation Report for NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)]
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)
Condition(s)
- Name:
- LAMA2-related muscular dystrophy (LAMA2-RD)
- Synonyms:
- Laminin alpha 2-related dystrophy
- Identifiers:
- MONDO: MONDO:0100228; MedGen: C5679788
Assertion and evidence details
Last Updated: Sep 29, 2024