NM_001845.6(COL4A1):c.4250-1G>A AND Brain small vessel disease 1 with or without ocular anomalies
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002283557.8
Allele description [Variation Report for NM_001845.6(COL4A1):c.4250-1G>A]
NM_001845.6(COL4A1):c.4250-1G>A
Condition(s)
Assertion and evidence details
Last Updated: Jun 2, 2024