NM_020366.4(RPGRIP1):c.3055A>T (p.Met1019Leu) AND Leber congenital amaurosis 6
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000371567.5
Allele description [Variation Report for NM_020366.4(RPGRIP1):c.3055A>T (p.Met1019Leu)]
NM_020366.4(RPGRIP1):c.3055A>T (p.Met1019Leu)
Condition(s)
Assertion and evidence details
Last Updated: Apr 9, 2023