ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.210A>G (p.Pro70=)

gnomAD frequency: 0.00385  dbSNP: rs145367062
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124870 SCV000168310 benign not specified 2013-02-28 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 RCV003764857 SCV000562696 benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2023-12-18 criteria provided, single submitter clinical testing

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