ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.6314del (p.Phe2105fs)

dbSNP: rs1830269249
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283755 SCV001469122 likely pathogenic Familial temporal lobe epilepsy 7 2020-02-05 no assertion criteria provided clinical testing

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