NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) AND Leber congenital amaurosis 6
- Germline classification:
- Pathogenic (9 submissions)
- Last evaluated:
- Mar 26, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000171128.18
Allele description [Variation Report for NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)]
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)
Condition(s)
Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001984513 | Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital | flagged submission Reason: This record appears to be redundant with a more recent record from the same submitter. Notes: SCV001984513 appears to be redundant with SCV002818118. (ACMG Guidelines, 2015) | Pathogenic (Apr 7, 2020) | germline | clinical testing |
Last Updated: Sep 29, 2024