NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg) AND not provided
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Mar 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000084997.11
Allele description [Variation Report for NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)]
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Oct 26, 2024
SCV000117133