ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) (rs200250181)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000513942 SCV000526600 likely benign not provided 2020-09-21 criteria provided, single submitter clinical testing
Invitae RCV001080086 SCV000563633 likely benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2020-12-04 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513942 SCV000610929 likely benign not provided 2017-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716619 SCV000847461 likely benign Seizures 2018-04-25 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000428869 SCV000854996 benign not specified 2017-09-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000513942 SCV001928152 likely benign not provided no assertion criteria provided clinical testing

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