NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp) AND Choroidal dystrophy, central areolar 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003324505.2
Allele description [Variation Report for NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp)]
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024