ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) (rs56342240)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173031 SCV000113138 likely benign not specified 2014-09-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000173031 SCV000152497 likely benign not specified 2017-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000081230 SCV000490765 likely benign not provided 2020-10-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25648840, 26302956)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000081230 SCV000609270 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000081230 SCV000614866 benign not provided 2019-01-07 criteria provided, single submitter clinical testing
Invitae RCV001083944 SCV000656287 likely benign Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 2020-12-08 criteria provided, single submitter clinical testing
Mendelics RCV000987939 SCV001137433 benign Norman-Roberts syndrome 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000987939 SCV001323865 likely benign Norman-Roberts syndrome 2017-05-09 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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