ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.1722C>T (p.Asp574=)

gnomAD frequency: 0.00003  dbSNP: rs1404706727
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001403443 SCV001605313 likely benign Developmental and epileptic encephalopathy, 31A 2025-01-11 criteria provided, single submitter clinical testing

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