ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.97T>C (p.Tyr33His)

gnomAD frequency: 0.00036  dbSNP: rs374402088
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187354 SCV000240939 likely benign not provided 2019-02-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26423924)
Invitae RCV003765180 SCV000763151 likely benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2022-10-13 criteria provided, single submitter clinical testing

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