ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.3G>T (p.Met1Ile)

gnomAD frequency: 0.00001  dbSNP: rs1401701364
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001442440 SCV001645389 likely benign Developmental and epileptic encephalopathy, 31A 2023-10-16 criteria provided, single submitter clinical testing

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