NM_001171.6(ABCC6):c.2359G>A (p.Val787Ile) AND Autosomal recessive inherited pseudoxanthoma elasticum
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 6, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000991178.2
Allele description [Variation Report for NM_001171.6(ABCC6):c.2359G>A (p.Val787Ile)]
NM_001171.6(ABCC6):c.2359G>A (p.Val787Ile)
Condition(s)
Assertion and evidence details
Last Updated: Mar 10, 2024