ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.1358G>A (p.Arg453Gln)

gnomAD frequency: 0.00001  dbSNP: rs750296552
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554180 SCV000656469 likely benign Developmental and epileptic encephalopathy, 31A 2023-12-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003488692 SCV003830449 uncertain significance not provided 2022-10-27 criteria provided, single submitter clinical testing

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