NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg) AND Retinitis pigmentosa 39
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Mar 16, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003451666.3
Allele description [Variation Report for NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)]
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)
Condition(s)
Assertion and evidence details
Last Updated: Nov 3, 2024