ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) (rs118192254)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723967 SCV000226291 uncertain significance not provided 2014-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000723967 SCV000241561 benign not provided 2021-03-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20437616, 16235065, 18698150, 17765802)
Illumina Clinical Services Laboratory,Illumina RCV000327599 SCV000471883 likely benign Benign Neonatal Epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368463 SCV000471884 likely benign Benign familial neonatal seizures 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000368463 SCV000828546 likely benign Benign familial neonatal seizures 2020-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717890 SCV000848750 benign Seizures 2018-05-30 criteria provided, single submitter clinical testing In silico models in agreement (benign);Intact protein function observed in appropriate functional assay(s);Other data supporting benign classification
GeneReviews RCV000678048 SCV000041086 pathogenic Benign familial neonatal seizures 2 2010-04-27 no assertion criteria provided curation Converted during submission to Pathogenic.

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