ClinVar Miner

Submissions for variant NM_002500.5(NEUROD1):c.1050C>G (p.Leu350=)

gnomAD frequency: 0.00006  dbSNP: rs778703927
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002100307 SCV002387614 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498329 SCV002810809 likely benign Maturity-onset diabetes of the young type 6; Type 2 diabetes mellitus 2022-03-16 criteria provided, single submitter clinical testing

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