ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1506C>T (p.Ser502=)

gnomAD frequency: 0.00001  dbSNP: rs773684789
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002140732 SCV002469832 likely benign not provided 2024-08-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005025714 SCV005660253 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-01-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543892 SCV004782200 likely benign WFS1-related disorder 2020-04-20 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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