NM_014694.4(ADAMTSL2):c.1042G>C (p.Glu348Gln) AND Geleophysic dysplasia 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001169215.4
Allele description [Variation Report for NM_014694.4(ADAMTSL2):c.1042G>C (p.Glu348Gln)]
NM_014694.4(ADAMTSL2):c.1042G>C (p.Glu348Gln)
Condition(s)
Assertion and evidence details
Last Updated: Apr 9, 2023