ClinVar Miner

Submissions for variant NM_002500.5(NEUROD1):c.723C>G (p.His241Gln)

dbSNP: rs561017686
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521719 SCV001731112 benign not provided 2024-12-13 criteria provided, single submitter clinical testing
GeneDx RCV001521719 SCV001812563 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing Observed in individuals with features of MODY in published literature; however, unaffected family members were also heterozygous for the variant (Gonsorckov et al., 2008; Chapla et al., 2015); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30793219, 25041077, 31802016, 33046911, 34426522, 18331410)
Mendelics RCV002246406 SCV002517709 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002246406 SCV005381086 likely benign not specified 2024-08-14 criteria provided, single submitter clinical testing

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