ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.204C>G (p.Tyr68Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Istanbul Faculty of Medicine, Istanbul University RCV002464044 SCV002524171 pathogenic Norman-Roberts syndrome 2022-05-17 no assertion criteria provided clinical testing parents are heterozygous carriers

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