ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile)

gnomAD frequency: 0.00518  dbSNP: rs140990288
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175322 SCV000226793 likely benign not specified 2014-07-16 criteria provided, single submitter clinical testing
Invitae RCV000857921 SCV000289602 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000175322 SCV000297217 likely benign not specified 2015-11-06 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000857921 SCV001145469 benign not provided 2019-02-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000857921 SCV002544091 benign not provided 2024-03-01 criteria provided, single submitter clinical testing SCN3A: BP4, BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV002492743 SCV002799354 likely benign Developmental and epileptic encephalopathy, 62; Epilepsy, familial focal, with variable foci 4 2022-04-22 criteria provided, single submitter clinical testing

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