NM_207122.2(EXT2):c.988G>A (p.Val330Ile) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002952405.2
Allele description [Variation Report for NM_207122.2(EXT2):c.988G>A (p.Val330Ile)]
NM_207122.2(EXT2):c.988G>A (p.Val330Ile)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: May 1, 2024