ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) (rs1266787)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000385399 SCV000677282 benign Juvenile myoclonic epilepsy 2017-05-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116943 SCV000340382 benign not specified 2016-03-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116943 SCV000151052 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.
Illumina Clinical Services Laboratory,Illumina RCV000385399 SCV000464170 likely benign Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000473441 SCV000562690 benign Epilepsy juvenile absence; Juvenile myoclonic epilepsy 2017-08-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116943 SCV000313147 benign not specified criteria provided, single submitter clinical testing

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