ClinVar Genomic variation as it relates to human health
NM_002480.3(PPP1R12A):c.2861A>G (p.Asn954Ser)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely benign(1)
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 | |||
PPP1R12A | - | - |
GRCh38 GRCh37 |
144 | 169 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 2, 2023 | RCV003276899.2 | |
Likely benign (1) |
|
Oct 1, 2022 | RCV003410331.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024