ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp)

dbSNP: rs3804506
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116949 SCV000313150 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000272870 SCV000464159 likely benign Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000272870 SCV000677285 benign Juvenile myoclonic epilepsy 2017-05-04 criteria provided, single submitter clinical testing
Invitae RCV003764820 SCV001722945 benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001647131 SCV001860215 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116949 SCV000151058 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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