ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.530A>T (p.Tyr177Phe)

dbSNP: rs1764588785
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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 RCV002240253 SCV001219480 uncertain significance Typical absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2021-08-30 criteria provided, single submitter clinical testing

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