ClinVar Miner

Submissions for variant NM_002500.5(NEUROD1):c.195C>T (p.Asp65=)

gnomAD frequency: 0.00013  dbSNP: rs147643871
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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 RCV001403472 SCV001605343 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499858 SCV002804840 likely benign Maturity-onset diabetes of the young type 6; Type 2 diabetes mellitus 2021-12-29 criteria provided, single submitter clinical testing

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