ClinVar Genomic variation as it relates to human health
NM_017882.3(CLN6):c.723G>C (p.Met241Ile)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Pathogenic(1); Uncertain significance(2)
Pathogenic(1); Uncertain significance(2)
criteria provided, conflicting classifications
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 | |||
CLN6 | - | - |
GRCh38 GRCh37 |
762 | 778 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 24, 2023 | RCV003110441.3 | |
Uncertain significance (1) |
|
Jan 6, 2023 | RCV003162121.2 | |
Uncertain significance (1) |
|
Mar 1, 2024 | RCV003992743.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 15, 2024