ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1632C>T (p.Ser544=) (rs140115060)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155343 SCV000205029 likely benign not specified 2017-07-20 criteria provided, single submitter clinical testing p.Ser544Ser in Exon 08 of WFS1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has also been identified in 35/126666 of European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.b roadinstitute.org; dbSNP rs140115060).
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487945 SCV000575395 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000487945 SCV000970693 likely benign not provided 2018-04-09 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 RCV000487945 SCV001047204 likely benign not provided 2020-10-26 criteria provided, single submitter clinical testing

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