ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.577+7G>T

gnomAD frequency: 0.00091  dbSNP: rs188372756
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726753 SCV000702787 uncertain significance not provided 2018-06-11 criteria provided, single submitter clinical testing
GeneDx RCV000591639 SCV000729727 likely benign not specified 2017-12-08 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 RCV001088055 SCV001021894 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-02-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335232 SCV001528332 uncertain significance Norman-Roberts syndrome 2018-01-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV003905521 SCV004726205 likely benign RELN-related condition 2022-04-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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