Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002081250 | SCV002378663 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002081250 | SCV002497850 | likely benign | not provided | 2024-10-01 | criteria provided, single submitter | clinical testing | MRPS34: BP4, BS2 |
Ambry Genetics | RCV003007037 | SCV003539924 | uncertain significance | Inborn genetic diseases | 2021-06-22 | criteria provided, single submitter | clinical testing | The c.436G>C (p.E146Q) alteration is located in exon 3 (coding exon 3) of the MRPS34 gene. This alteration results from a G to C substitution at nucleotide position 436, causing the glutamic acid (E) at amino acid position 146 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Breakthrough Genomics, |
RCV002081250 | SCV005216933 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003911327 | SCV004723424 | likely benign | MRPS34-related disorder | 2019-07-30 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |