ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1294C>T (p.Leu432=)

dbSNP: rs35031397
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Total submissions: 5
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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 RCV000152673 SCV000202035 likely benign not specified 2013-04-11 criteria provided, single submitter clinical testing Leu432Leu in exon 8 of WFS1: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence.
GeneDx RCV000838006 SCV000979870 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing
Invitae RCV000838006 SCV001018160 benign not provided 2021-07-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001157343 SCV001318905 likely benign Autosomal dominant nonsyndromic hearing loss 6 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services,Illumina RCV001157344 SCV001318906 benign WFS1-Related Spectrum Disorders 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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