NM_016938.5(EFEMP2):c.847+20G>A AND Cutis laxa, autosomal recessive, type 1B
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002111766.6
Allele description [Variation Report for NM_016938.5(EFEMP2):c.847+20G>A]
NM_016938.5(EFEMP2):c.847+20G>A
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024