NM_001089.3(ABCA3):c.2173G>A (p.Glu725Lys) AND Interstitial lung disease due to ABCA3 deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 26, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001332803.1
Allele description [Variation Report for NM_001089.3(ABCA3):c.2173G>A (p.Glu725Lys)]
NM_001089.3(ABCA3):c.2173G>A (p.Glu725Lys)
Condition(s)
Assertion and evidence details
Last Updated: Feb 7, 2023