ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.2303+16G>T

gnomAD frequency: 0.00198  dbSNP: rs188276472
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608510 SCV000728029 likely benign not specified 2018-03-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002064330 SCV002458922 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-01-27 criteria provided, single submitter clinical testing

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