ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.342C>T (p.Ala114=) (rs201151892)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430540 SCV000535359 likely benign not specified 2016-12-28 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 RCV000430540 SCV000712170 benign not specified 2016-05-23 criteria provided, single submitter clinical testing p.Ala114Ala in exon 4 of WFS1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, it is not located wit hin the splice consensus sequence, and it has been identified in 0.5% (34/6800) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro; dbSNP rs201151892).
Invitae RCV000872226 SCV001014012 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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