ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val) (rs143704418)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000223967 SCV000280996 likely benign not provided 2016-04-19 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000223967 SCV000524406 likely benign not provided 2021-02-24 criteria provided, single submitter clinical testing
Invitae RCV001080305 SCV000652952 likely benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2020-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718843 SCV000849707 likely benign Seizures 2018-05-14 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000223967 SCV001741902 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000223967 SCV001929114 likely benign not provided no assertion criteria provided clinical testing

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