Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Clin |
RCV005253658 | SCV005903440 | benign | RASopathy | 2024-12-03 | reviewed by expert panel | curation | The c.53-9G>A variant in PPP1CB is an intronic splicing variant located in intron 1 of PPP1CB. The filtering allele frequency in gnomAD v2 is 0.5284% in the African American population, which is higher than the ClinGen RASopathy VCEP threshold (>0.0005) for BA1, and therefore meets this criterion (BA1). In summary, this variant meets the criteria to be classified as benign for autosomal dominant RASopathy based on the ACMG/AMP criteria applied, as specified by the ClinGen RASopathy VCEP: BA1. (RASopathy VCEP specifications version 1.3; 12/3/2024) |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV005236443 | SCV005883774 | benign | not specified | 2024-12-27 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002495548 | SCV002803513 | likely benign | Noonan syndrome-like disorder with loose anagen hair 2 | 2022-05-24 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000924000 | SCV001815362 | likely benign | not provided | 2019-09-24 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000924000 | SCV001069501 | benign | not provided | 2026-01-31 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV003970517 | SCV004781991 | benign | PPP1CB-related disorder | 2019-10-28 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |