ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1224C>T (p.Asp408=)

gnomAD frequency: 0.00613  dbSNP: rs116134831
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116942 SCV000168313 benign not specified 2013-01-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV003764813 SCV000562694 benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000116942 SCV000613243 benign not specified 2016-10-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116942 SCV000151051 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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