ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1893C>T (p.Tyr631=)

gnomAD frequency: 0.00805  dbSNP: rs35648306
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124875 SCV000168315 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 RCV002498599 SCV000562693 benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000475382 SCV001143853 benign not provided 2019-03-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498599 SCV002795524 likely benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2021-11-05 criteria provided, single submitter clinical testing

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