ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.1(chr17:8219814-8676240)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
MYH10 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
169 | 200 | |
ARHGEF15 | - | - |
GRCh38 GRCh37 |
589 | 617 | |
CCDC42 | - | - | - |
GRCh38 GRCh37 |
26 | 40 |
KRBA2 | - | - | - |
GRCh38 GRCh37 |
26 | 51 |
NDEL1 | - | - |
GRCh38 GRCh37 |
13 | 29 | |
ODF4 | - | - |
GRCh38 GRCh37 |
11 | 37 | |
RNF222 | - | - | - |
GRCh38 GRCh37 |
25 | 42 |
RPL26 | - | - |
GRCh38 GRCh37 |
82 | 107 | |
SPDYE4 | - | - |
GRCh38 GRCh37 |
22 | 36 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 8, 2017 | RCV000683885.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023