ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q35.2(chr4:187333416-187518766)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
FAT1 | - | - |
GRCh38 GRCh37 |
992 | 1323 | |
MTNR1A | - | - |
GRCh38 GRCh37 |
22 | 163 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 7, 2017 | RCV000659198.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 24, 2022