ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.629C>A (p.Thr210Lys)

dbSNP: rs1555889162
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001953876 SCV002240653 pathogenic Developmental and epileptic encephalopathy, 26 2021-07-13 criteria provided, single submitter clinical testing
Kearney Laboratory, Northwestern University Feinberg School of Medicine RCV003320446 SCV004024583 not provided not provided no assertion provided in vitro

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