Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000755992 | SCV000883684 | uncertain significance | not provided | 2018-06-22 | criteria provided, single submitter | clinical testing | The CRB1 c.1292C>T; p.Thr431Ile variant (rs751691851), to our knowledge, is not reported in the medical literature or in gene-specific databases. The variant is not reported in the ClinVar database, but is listed in the Genome Aggregation Database in 0.08% (25/30782 alleles) of the South Asian population. The threonine at codon 43 is moderately conserved across species and computational algorithms (PolyPhen-2, SIFT) predict this variant is tolerated. Considering available information, there is insufficient evidence to classify the variant with certainty. Pathogenic CRB1 variants are causative for autosomal dominant pigmented paravenous chorioretinal atrophy (MIM: 172870) or autosomal recessive Leber congenital amaurosis (MIM: 613835) or retinitis pigmentosa (MIM: 600105). |
Invitae | RCV001049610 | SCV001213668 | likely benign | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001825490 | SCV002090136 | uncertain significance | Leber congenital amaurosis | 2019-11-11 | no assertion criteria provided | clinical testing |