NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 3, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000711241.3
Allele description [Variation Report for NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)]
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Oct 13, 2024