Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000223502 | SCV000269169 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Thr317Ser in exon 13 of HSD17B4: This variant is not expected to have clinical s ignificance because it has been identified in 7.0% (307/4404) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs1143650). |
Center for Pediatric Genomic Medicine, |
RCV000224881 | SCV000281271 | benign | not provided | 2015-10-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000223502 | SCV000304082 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000265653 | SCV000452117 | likely benign | Perrault syndrome 1 | 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. |
Illumina Laboratory Services, |
RCV000320748 | SCV000452118 | likely benign | Bifunctional peroxisomal enzyme deficiency | 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. |
Gene |
RCV000223502 | SCV000729762 | benign | not specified | 2017-10-05 | 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. |
Invitae | RCV001084093 | SCV001099415 | benign | Bifunctional peroxisomal enzyme deficiency; Perrault syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000224881 | SCV000801813 | benign | not provided | 2016-10-14 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000320748 | SCV001458664 | benign | Bifunctional peroxisomal enzyme deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |