ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=)

gnomAD frequency: 0.00264  dbSNP: rs147274045
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126475 SCV000169982 benign not specified 2013-09-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Preventiongenetics, part of Exact Sciences RCV000126475 SCV000316431 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000126475 SCV000336242 benign not specified 2015-10-16 criteria provided, single submitter clinical testing
Invitae RCV000456912 SCV000555716 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312575 SCV000846980 likely benign Inborn genetic diseases 2016-06-16 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.
CeGaT Center for Human Genetics Tuebingen RCV002055650 SCV002496690 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing KCNQ2: BP4, BP7, BS1

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