ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q27(chr6:168046443-168256239)x3
Germline
Classification
(1)
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 | |||
FRMD1 | - | - | - |
GRCh38 GRCh37 |
75 | 146 |
LOC101929420 | - | - | - | GRCh38 | - | 29 |
LOC105378137 | - | - | - | GRCh38 | - | 29 |
LOC121132718 | - | - | - | GRCh38 | - | 28 |
LOC126859900 | - | - | - | GRCh38 | - | 27 |
LOC126859901 | - | - | - | GRCh38 | - | 28 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Benign (1) |
|
Oct 1, 2010 | RCV000141590.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024