ClinVar Genomic variation as it relates to human health
nsv1067861
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
RB1CC1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
79 | 133 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 1, 2002 | RCV000004183.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022
NCBI staff reviewed the sequence information reported in PubMed 12068296 Fig. 3B to determine the location of this allele on the current reference sequence.
Deletion beginning in the CDS in exon 9 and extending in exon 23, resulting in the deletion of exons 3-23 from RB1CC1.