Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000970554 | SCV001118140 | likely benign | not provided | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000970554 | SCV001153501 | uncertain significance | not provided | 2019-06-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001138455 | SCV001298510 | likely benign | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Baylor Genetics | RCV001138455 | SCV001522531 | uncertain significance | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 2020-11-19 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |