NM_001903.5(CTNNA1):c.953T>C (p.Leu318Ser) AND Patterned macular dystrophy 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 8, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000210752.1
Allele description [Variation Report for NM_001903.5(CTNNA1):c.953T>C (p.Leu318Ser)]
NM_001903.5(CTNNA1):c.953T>C (p.Leu318Ser)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022