ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.580T>C (p.Leu194=)

dbSNP: rs1015952309
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713076 SCV000843644 uncertain significance not provided 2018-04-27 criteria provided, single submitter clinical testing
Invitae RCV003768106 SCV004573635 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-07-08 criteria provided, single submitter clinical testing

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