ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1923G>A (p.Thr641=) (rs139040290)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441905 SCV000515275 benign not specified 2015-03-31 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 RCV000441905 SCV001365985 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Thr641Thr in Exon 08 of WFS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 2/7020 European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs139040290).
Invitae RCV001459951 SCV001663807 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing

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