Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000245480 | SCV000304286 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000245480 | SCV000331494 | benign | not specified | 2016-07-13 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000677337 | SCV000470145 | benign | Progressive familial intrahepatic cholestasis type 3 | 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. |
Illumina Laboratory Services, |
RCV000343693 | SCV000470146 | benign | Cholestasis, intrahepatic, of pregnancy, 3 | 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. |
Gene |
RCV000245480 | SCV000517696 | benign | not specified | 2016-01-08 | 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. |
SIB Swiss Institute of Bioinformatics | RCV000677337 | SCV000803607 | benign | Progressive familial intrahepatic cholestasis type 3 | 2018-05-31 | criteria provided, single submitter | curation | This variant is interpreted as a Benign - Stand Alone, for PFIC3, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000245480 | SCV002051329 | likely benign | not specified | 2021-12-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002057357 | SCV002409100 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing |