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

gnomAD frequency: 0.07947  dbSNP: rs1266787

Total submissions: 7

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
Invitae	RCV003764814	SCV000562690	benign	Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	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
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.