NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) AND Vitelliform macular dystrophy 3
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002288583.3
Allele description [Variation Report for NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)]
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024