ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.681A>G (p.Ser227=)

gnomAD frequency: 0.00001  dbSNP: rs772096798
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003768665 SCV001012662 likely benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2023-12-18 criteria provided, single submitter clinical testing

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