ClinVar Genomic variation as it relates to human health
NM_001077415.3(CRELD1):c.258-6G>A
Germline
Classification
(2)
Likely benign
criteria provided, single submitter
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 | |||
CRELD1 | - | - |
GRCh38 GRCh37 |
161 | 228 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jun 1, 2023 | RCV003433411.10 | |
CRELD1-related disorder
|
Benign (1) |
|
Jun 7, 2019 | RCV003938985.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 20, 2024