Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Clinical Genetics Laboratory, |
RCV005428991 | SCV006099545 | pathogenic | Incidental Discovery | 2025-06-23 | criteria provided, single submitter | clinical testing | ACMG criteria used: PVS1, PM2, PM3_Strong. |
| Fulgent Genetics, |
RCV005003350 | SCV005629507 | pathogenic | Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 | 2024-04-11 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001579849 | SCV004295829 | pathogenic | not provided | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr484Thrfs*13) in the SCNN1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCNN1A are known to be pathogenic (PMID: 10403853, 23416952). This variant is present in population databases (rs756434927, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with pseudohypoaldosteronism type 1 (PMID: 10586178). ClinVar contains an entry for this variant (Variation ID: 9265). For these reasons, this variant has been classified as Pathogenic. |
| Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001579849 | SCV001957649 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
| Genome Diagnostics Laboratory, |
RCV001579849 | SCV001808732 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
| OMIM | RCV000009847 | SCV000030068 | pathogenic | Pseudohypoaldosteronism, type IB1, autosomal recessive | 1999-12-01 | no assertion criteria provided | literature only |