ClinVar Miner

Submissions for variant NM_145261.4(DNAJC19):c.69G>A (p.Leu23=) (rs142023670)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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.
Illumina Clinical Services Laboratory,Illumina RCV000295031 SCV000442279 uncertain significance 3-methylglutaconic aciduria type V 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000677066 SCV000641957 benign not provided 2019-02-08 criteria provided, single submitter clinical testing
Integrated 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000677066 SCV000802902 likely benign not provided 2016-02-25 no assertion criteria provided clinical testing

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