ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser)

gnomAD frequency: 0.00002  dbSNP: rs118192252
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723919 SCV000224956 uncertain significance not provided 2014-06-03 criteria provided, single submitter clinical testing
GeneDx RCV000723919 SCV000241612 likely benign not provided 2019-07-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 14534157, 32613771)
Invitae RCV001081148 SCV001131931 likely benign Benign neonatal seizures 2023-11-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000723919 SCV001144354 likely benign not provided 2019-03-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390116 SCV002699157 likely benign Inborn genetic diseases 2019-08-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneReviews RCV000678047 SCV000041084 not provided Seizures, benign familial neonatal, 2 no assertion provided literature only All 3 sibs with the variant were affected. Chinese ethnicity; variant is present in 0.06% of East Asians (gnomAD)

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