ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.-24GGC[10] (p.Met1_Glu2insGlyGly)

dbSNP: rs55656324
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118137 SCV000152481 uncertain significance not provided 2013-05-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000247496 SCV000310781 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000378549 SCV000465999 benign Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000118137 SCV001834914 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795181 SCV002033548 benign Norman-Roberts syndrome 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055296 SCV002461429 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2021-11-03 criteria provided, single submitter clinical testing

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