NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003169620.2
Allele description [Variation Report for NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys)]
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Jun 2, 2024