ClinVar Miner

Submissions for variant NM_018100.3(EFHC1):c.475C>G (p.Arg159Gly) (rs3804506)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000438446 SCV000510600 likely benign not provided 2016-12-09 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177299 SCV000229144 benign not specified 2015-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000177299 SCV000240917 benign not specified 2015-02-20 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 RCV000474225 SCV000562684 benign Epilepsy juvenile absence; Juvenile myoclonic epilepsy 2018-01-08 criteria provided, single submitter clinical testing

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