ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.876A>G (p.Thr292=)

dbSNP: rs1194475149
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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 RCV002220166 SCV002363872 likely benign Developmental and epileptic encephalopathy, 31A 2024-03-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434397 SCV004160773 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing DNM1: BP4, BP7

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