ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)

gnomAD frequency: 0.00242  dbSNP: rs137852776
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178317 SCV000230376 likely benign not specified 2015-05-05 criteria provided, single submitter clinical testing
GeneDx RCV000513761 SCV000240927 benign not provided 2021-05-05 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23527921, 22690745, 27467453, 17634063, 17159113, 25625532, 28370826, 25489633, 24965021, 22226147, 18823326, 12439895, 15258581, 22926142)
Genetic Services Laboratory, University of Chicago RCV000178317 SCV000247259 uncertain significance not specified 2014-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003764516 SCV000562692 benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2024-01-18 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513761 SCV000610235 likely benign not provided 2017-08-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000513761 SCV000613248 uncertain significance not provided 2019-04-04 criteria provided, single submitter clinical testing
New York Genome Center RCV001838977 SCV002099021 uncertain significance Absence seizure 2021-07-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513761 SCV004163608 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing EFHC1: BS2
OMIM RCV000002145 SCV000022303 uncertain significance Myoclonic epilepsy, juvenile, susceptibility to, 1 2006-12-12 no assertion criteria provided literature only

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