ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2622C>T (p.Ala874=)

gnomAD frequency: 0.00018  dbSNP: rs141052196
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000872828 SCV000515280 likely benign not provided 2021-02-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000872828 SCV001014708 benign not provided 2024-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488895 SCV002803368 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-10-30 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003147453 SCV003804392 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 rs141052196 in Wolfram's syndrome yet.
PreventionGenetics, part of Exact Sciences RCV004539787 SCV004783042 likely benign WFS1-related disorder 2020-01-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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