NM_176824.3(BBS7):c.1381A>G (p.Ile461Val) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002552474.2
Allele description [Variation Report for NM_176824.3(BBS7):c.1381A>G (p.Ile461Val)]
NM_176824.3(BBS7):c.1381A>G (p.Ile461Val)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: May 26, 2024