ClinVar Genomic variation as it relates to human health
NM_020937.4(FANCM):c.4222+1981_4303del
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 | |||
FANCM | - | - |
GRCh38 GRCh37 |
2318 | 2359 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 2, 2009 | RCV000001666.14 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024
This deletion begins in intron 14 and extends into exon 15, as annotated on NG_007417.1.
NCBI staff reviewed the description in OMIM and connected the record to the description of the deletion in the FANCM database.