ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser) (rs114807343)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153825 SCV000203406 benign not specified 2014-02-07 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000420283 SCV000511863 likely benign not provided 2016-09-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000420283 SCV000514399 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing
Invitae RCV001083070 SCV000656327 likely benign Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 2020-11-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000420283 SCV001155199 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing

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