ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q11.23(chr8:52387273-52944183)x3
Germline
Classification
(1)
Likely benign
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 |
90 | 144 | |
ALKAL1 | - | - |
GRCh38 GRCh37 |
12 | 63 | |
LOC108281129 | - | - | - | GRCh38 | - | 16 |
LOC126860387 | - | - | - | GRCh38 | - | 21 |
LOC126860388 | - | - | - | GRCh38 | - | 21 |
LOC129389987 | - | - | - | GRCh38 | - | 23 |
LOC130000361 | - | - | - | GRCh38 | - | 22 |
LOC130000362 | - | - | - | GRCh38 | - | 22 |
LOC130000363 | - | - | - | GRCh38 | - | 22 |
LOC130000364 | - | - | - | GRCh38 | - | 22 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Sep 21, 2012 | RCV000139568.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024