Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082191 | SCV000114137 | benign | not specified | 2014-05-20 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000082191 | SCV000314278 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000362355 | SCV000375404 | benign | Pseudo-Hurler polydystrophy | 2018-01-12 | 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. |
Illumina Laboratory Services, |
RCV000270011 | SCV000375405 | benign | Mucolipidosis type II | 2018-01-12 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586973 | SCV000699479 | benign | not provided | 2016-10-10 | criteria provided, single submitter | clinical testing | Variant summary: The GNPTAB c.3135+5T>C variant involves the alteration of a non-conserved intronic nucleotide with 5/5 splice prediction tools predict no significant impact on normal splicing. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 72377/120336 (22256 homozygotes) at a frequency of 0.6014576, with indicates the C allele is the major allele (the allele most commonly observed in the general population). In addition, multiple clinical diagnostic laboratories/databases cite the variant as "benign." Therefore, the variant of interest has been classified as Benign. |
Gene |
RCV000586973 | SCV000972958 | benign | not provided | 2018-06-13 | 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 | RCV001516227 | SCV001724474 | benign | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000270011 | SCV001749309 | benign | Mucolipidosis type II | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000362355 | SCV001749310 | benign | Pseudo-Hurler polydystrophy | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000586973 | SCV000800947 | benign | not provided | 2015-10-20 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000270011 | SCV001457940 | benign | Mucolipidosis type II | 2020-09-16 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV000082191 | SCV001741817 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000082191 | SCV001973010 | benign | not specified | no assertion criteria provided | clinical testing |