ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.510C>T (p.Thr170=)

dbSNP: rs151277039
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001651530 SCV001864441 likely benign not provided 2018-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001651530 SCV002445721 likely benign not provided 2024-11-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501986 SCV002796807 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-10-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001651530 SCV004147630 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing WFS1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004536238 SCV004712122 likely benign WFS1-related disorder 2021-03-19 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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