ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.1207C>T (p.Leu403=)

gnomAD frequency: 0.00002  dbSNP: rs749215518
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 RCV001472370 SCV001676500 likely benign Developmental and epileptic encephalopathy, 26 2024-11-03 criteria provided, single submitter clinical testing
Athena Diagnostics RCV005000205 SCV005621645 benign not specified 2024-09-30 criteria provided, single submitter clinical testing

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