ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.713-1075C>G (rs6446482)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000830171 SCV000971906 benign not provided 2018-06-14 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.
Mendelics RCV000987406 SCV001136695 benign Diabetes mellitus AND insipidus with optic atrophy AND deafness 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000004786 SCV000024962 pathogenic Diabetes mellitus, noninsulin-dependent, association with 2007-08-01 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000004786 SCV001142336 benign Diabetes mellitus, noninsulin-dependent, association with 2020-01-06 no assertion criteria provided curation NG_011700.1(NM_006005.3):c.713-1075C>G (rs6446482) in the WFS1 gene has an allele frequency of 0.647 in African subpopulation in the gnomAD database, including 6277 homozygous. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1, BS2.

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