NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter) AND Retinitis pigmentosa 38
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 17, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003987407.3
Allele description [Variation Report for NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter)]
NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter)
Condition(s)
Assertion and evidence details
Last Updated: Aug 11, 2024