Total submissions: 17
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000120978 | SCV000168402 | benign | not specified | 2013-10-17 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
EGL Genetic Diagnostics, |
RCV000120978 | SCV000232007 | benign | not specified | 2015-08-24 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000120978 | SCV000257632 | uncertain significance | not specified | 2015-07-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001083500 | SCV000261219 | benign | Fanconi anemia | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Vantari Genetics | RCV000124962 | SCV000267037 | benign | Hereditary cancer-predisposing syndrome | 2015-12-03 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000179716 | SCV000281279 | likely benign | not provided | 2015-08-26 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Prevention |
RCV000120978 | SCV000302521 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Laboratory for Molecular Medicine, |
RCV000120978 | SCV000539136 | likely benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 proband of European ancestry in homozygous state (Verlander 1994). Classified as Benign in ClinVar by GeneDx. MAF 0.4%. |
Genetic Services Laboratory, |
RCV000120978 | SCV000594678 | likely benign | not specified | 2015-09-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000124962 | SCV000673285 | benign | Hereditary cancer-predisposing syndrome | 2018-09-21 | criteria provided, single submitter | clinical testing | Intact protein function observed by in vitro/ex vivo assays;Sub-population frequency in support of benign classification (not ava blue, manual h-w);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Subpopulation frequency in support of benign classification;Intact protein function observed in appropriate functional assay(s);Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene |
Counsyl | RCV000667368 | SCV000791802 | likely benign | Fanconi anemia, complementation group C | 2017-05-25 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000667368 | SCV000838354 | likely benign | Fanconi anemia, complementation group C | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000179716 | SCV000892896 | uncertain significance | not provided | 2018-06-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000988215 | SCV001137852 | likely benign | Fanconi anemia, complementation group A | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000667368 | SCV001329919 | likely benign | Fanconi anemia, complementation group C | 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
ITMI | RCV000120978 | SCV000085146 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Leiden Open Variation Database | RCV000179716 | SCV001365302 | uncertain significance | not provided | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |