ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2208C>T (p.Gly736=)

gnomAD frequency: 0.00006  dbSNP: rs141020933
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704817 SCV000730495 likely benign not provided 2019-11-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001153484 SCV001314777 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services,Illumina RCV001153485 SCV001314778 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001704817 SCV002400701 likely benign not provided 2021-11-18 criteria provided, single submitter clinical testing

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