ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3261G>T (p.Val1087=)

gnomAD frequency: 0.00002  dbSNP: rs932319701
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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 RCV000544442 SCV000639622 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-09-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005056147 SCV005726666 likely benign not specified 2024-11-18 criteria provided, single submitter clinical testing

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