NM_005051.3(QARS1):c.2084+2_2084+3del AND Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 18, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002551190.9
Allele description [Variation Report for NM_005051.3(QARS1):c.2084+2_2084+3del]
NM_005051.3(QARS1):c.2084+2_2084+3del
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024