ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp)

gnomAD frequency: 0.00220  dbSNP: rs117067974
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117341 SCV000151523 benign not specified 2021-08-30 criteria provided, single submitter clinical testing
GeneDx RCV001703417 SCV000169969 benign not provided 2020-09-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27779742, 32169601, 31180159, 20981092, 22995991, 19380078, 25819767, 28399683, 28038823, 30558019, 31199083)
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000020972 SCV000267377 uncertain significance Seizures, benign familial neonatal, 1 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000465560 SCV000555714 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313718 SCV000848170 benign Inborn genetic diseases 2016-11-02 criteria provided, single submitter clinical testing This alteration is classified as 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.
Eurofins Ntd Llc (ga) RCV000117341 SCV000854943 benign not specified 2017-08-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001703417 SCV004150919 benign not provided 2023-09-01 criteria provided, single submitter clinical testing KCNQ2: PP2, BS1, BS2
Channelopathy-Associated Epilepsy Research Center RCV003315295 SCV004015082 not provided Complex neurodevelopmental disorder no assertion provided literature only

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