ClinVar Genomic variation as it relates to human health
NM_003480.4(MFAP5):c.441C>G (p.Pro147=)
Germline
Classification
(2)
Likely benign
criteria provided, multiple submitters, no conflicts
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 | |||
LOC126861443 | - | - | - | GRCh38 | - | 55 |
MFAP5 | - | - |
GRCh38 GRCh37 |
210 | 291 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jun 12, 2021 | RCV002333876.2 | |
Likely benign (1) |
|
Apr 28, 2023 | RCV003669276.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024