NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002496258.2
Allele description [Variation Report for NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)]
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024