Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082591 | SCV000114633 | benign | not specified | 2015-10-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000082591 | SCV000315852 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000351510 | SCV000464046 | benign | Autosomal recessive polycystic kidney disease | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Invitae | RCV000351510 | SCV001000018 | benign | Autosomal recessive polycystic kidney disease | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Pars Genome Lab | RCV001530472 | SCV001745310 | benign | Polycystic kidney disease 4 | 2021-06-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705804 | SCV001830339 | benign | not provided | 2018-07-09 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001530472 | SCV002029985 | benign | Polycystic kidney disease 4 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001027933 | SCV000592906 | benign | Polycystic kidney disease | no assertion criteria provided | clinical testing | The PKHD1 p.Ala3079= variant was identified in dbSNP (ID: rs765525) “With Benign allele”, ClinVar (classified benign by EGL Genetic Diagnostics (Eurofins Clinical Diagnostics), Prevention Genetics, Illumina), Clinvitae (3x), RWTH AAachen University ARPKD database (as a polymorphism) and in control databases in 113331 (26391 homozygous) of 276718 chromosomes at a frequency of 0.4 (Genome Aggregation Database Feb 27, 2017). Breakdown of the observations by population include African in 2095 (96 homozygous) of 24010 chromosomes (freq: 0.09), Other in 2490 (481 homozygous) of 6458 chromosomes (freq: 0.4), Latino in 19685 (5835 homozygous) of 34372 chromosomes (freq: 0.6), European Non-Finnish in 46358 (8579 homozygous) of 126354 chromosomes (freq: 0.4), Ashkenazi Jewish in 3338 (532 homozygous) of 10138 chromosomes (freq: 0.3), East Asian in 13406 (4748 homozygous) of 18840 chromosomes (freq: 0.7), European Finnish in 10817 (2293 homozygous) of 25772 chromosomes (freq: 0.4), and South Asian in 15142 (3827 homozygous) of 30774 chromosomes (freq: 0.5). The variant was not identified in the GeneInsight-COGR, or LOVD 3.0. The p.Ala3079= variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information this variant meets our laboratory criteria to be classified as benign. | |
Natera, |
RCV001027933 | SCV001190663 | benign | Polycystic kidney disease | 2019-05-20 | no assertion criteria provided | clinical testing |