NM_001171.6(ABCC6):c.1092_1339-1949del AND Autosomal recessive inherited pseudoxanthoma elasticum
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000499198.3
Allele description [Variation Report for NM_001171.6(ABCC6):c.1092_1339-1949del]
NM_001171.6(ABCC6):c.1092_1339-1949del
Condition(s)
Assertion and evidence details
Last Updated: Feb 14, 2024