ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.69G>A (p.Ala23=)

gnomAD frequency: 0.00006  dbSNP: rs750859280
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698243 SCV000527855 likely benign not provided 2020-09-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001698243 SCV002370493 likely benign not provided 2024-01-07 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002509065 SCV002769797 benign Wolfram syndrome 1 criteria provided, single submitter research Potent mutations in WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy. However no sufficient evidence is found to ascertain the role of this particular variant rs750859280 in Wolfram's syndrome yet.
CeGaT Center for Human Genetics Tuebingen RCV001698243 SCV004147626 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing WFS1: BP4, BP7

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