ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.5530-18A>G

gnomAD frequency: 0.00046  dbSNP: rs188302870
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002077126 SCV002436110 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503151 SCV002811294 likely benign Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2021-09-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707677 SCV005228448 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001699600 SCV001917791 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699600 SCV001930828 benign not specified no assertion criteria provided clinical testing

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