ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.2427G>C (p.Leu809=)

dbSNP: rs897409469
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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 RCV002199392 SCV002349104 likely benign Developmental and epileptic encephalopathy, 31A 2022-11-28 criteria provided, single submitter clinical testing

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