Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517261 | SCV000616250 | likely benign | not provided | 2018-05-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000517261 | SCV001001037 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000517261 | SCV001155657 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | VPS13A: BP4, BS2 |
Illumina Laboratory Services, |
RCV000605550 | SCV001329692 | benign | Chorea-acanthocytosis | 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Baylor Genetics | RCV000605550 | SCV001525987 | uncertain significance | Chorea-acanthocytosis | 2018-07-16 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV000517261 | SCV001865479 | benign | not provided | 2018-10-25 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000605550 | SCV000734709 | likely benign | Chorea-acanthocytosis | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001580041 | SCV001809460 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000517261 | SCV001974828 | likely benign | not provided | no assertion criteria provided | clinical testing |