Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
St. |
RCV000722038 | SCV000853215 | pathogenic | Precursor B-cell acute lymphoblastic leukemia | 2018-07-26 | criteria provided, single submitter | clinical testing | This is a frameshift alteration in which coding nucleotides 1484 through 1488 are deleted. This is predicted to change a Threonine to an Asparagine at codon 495, as well as shift the reading frame and result in a premature stop codon 6 amino acids downstream. Classification criteria: PVS1, PS3, PM2, PP1. |
OMIM | RCV000049244 | SCV000077497 | pathogenic | Fanconi anemia complementation group Q | 2013-05-02 | no assertion criteria provided | literature only | |
Leiden Open Variation Database | RCV000049244 | SCV001364565 | pathogenic | Fanconi anemia complementation group Q | 2014-10-03 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |