NM_018941.4(CLN8):c.209G>A (p.Arg70His) AND Inborn genetic diseases
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 3, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000623329.4
Allele description [Variation Report for NM_018941.4(CLN8):c.209G>A (p.Arg70His)]
NM_018941.4(CLN8):c.209G>A (p.Arg70His)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Sep 29, 2024