ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1395C>T (p.Ala465=)

gnomAD frequency: 0.00012  dbSNP: rs71530905
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000219568 SCV000269955 benign not specified 2015-02-25 criteria provided, single submitter clinical testing p.Ala465Ala in exon 8 of WFS1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.3% (46/16504) of So uth Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs71530905).
GeneDx RCV000878576 SCV000515271 likely benign not provided 2019-06-19 criteria provided, single submitter clinical testing
Invitae RCV000878576 SCV001021501 benign not provided 2021-12-13 criteria provided, single submitter clinical testing

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