NM_005559.4(LAMA1):c.7009dup (p.Ser2337fs) AND Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Apr 10, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002211034.2
Allele description [Variation Report for NM_005559.4(LAMA1):c.7009dup (p.Ser2337fs)]
NM_005559.4(LAMA1):c.7009dup (p.Ser2337fs)
Condition(s)
Assertion and evidence details
Last Updated: Jul 23, 2024