Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124749 | SCV000168188 | benign | not specified | 2014-02-21 | 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. |
Labcorp Genetics |
RCV000295031 | SCV000641957 | benign | 3-methylglutaconic aciduria type 5 | 2025-01-31 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000124749 | SCV000917298 | benign | not specified | 2017-09-11 | criteria provided, single submitter | clinical testing | Variant summary: The c.69G>A (p.Leu23=) in DNAJC19 gene is a synonymous change that involves a mildly conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in control dataset of ExAC at a frequency of 0.0044 (540/ 121392 chrs tested, including 4 homozygotes). These frequencies exceed the estimated maximum allele frequency for a pathogenic allele in this gene (0.000025). The variant of interest has not, to our knowledge, been reported in affected individuals via published reports, but is sited as Benign by a reputable database/clinical laboratory. Taking together, the variant was classified as Benign. |
Ce |
RCV000677066 | SCV002544846 | likely benign | not provided | 2025-03-01 | criteria provided, single submitter | clinical testing | DNAJC19: BP4, BP7, BS2 |
Breakthrough Genomics, |
RCV000677066 | SCV005302542 | benign | not provided | criteria provided, single submitter | not provided | ||
Mayo Clinic Laboratories, |
RCV000677066 | SCV000802902 | likely benign | not provided | 2016-02-25 | no assertion criteria provided | clinical testing |