ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2370G>C (p.Ser790=) (rs150936382)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726324 SCV000343803 uncertain significance not provided 2016-08-03 criteria provided, single submitter clinical testing
GeneDx RCV000292988 SCV000515365 likely benign not specified 2016-09-07 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000292988 SCV000713451 likely benign not specified 2017-07-25 criteria provided, single submitter clinical testing p.Ser790Ser in exon 8 of WFS1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence. It has been identified in 1/8714 African chromosomes and 1/14982 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs150936382).

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