NM_004937.3(CTNS):c.363C>T (p.Ser121=) AND Ocular cystinosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000278919.13
Allele description [Variation Report for NM_004937.3(CTNS):c.363C>T (p.Ser121=)]
NM_004937.3(CTNS):c.363C>T (p.Ser121=)
Condition(s)
Assertion and evidence details
Last Updated: Apr 20, 2024