NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) AND Patterned macular dystrophy 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000987696.2
Allele description [Variation Report for NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr)]
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024