ClinVar Miner

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

gnomAD frequency: 0.07947  dbSNP: rs1266787
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116943 SCV000313147 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000116943 SCV000340382 benign not specified 2016-03-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385399 SCV000464170 likely benign Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003764814 SCV000562690 benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000385399 SCV000677282 benign Juvenile myoclonic epilepsy 2017-05-30 criteria provided, single submitter clinical testing
GeneDx RCV001723678 SCV001950702 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001723678 SCV005222021 likely benign not provided criteria provided, single submitter not provided
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.

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