ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu) (rs62637610)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473995 SCV000554095 benign Dyskeratosis congenita 2019-12-31 criteria provided, single submitter clinical testing
Johns Hopkins Genomics,Johns Hopkins University RCV000758246 SCV000886886 likely benign Cerebroretinal microangiopathy with calcifications and cysts 1 2019-02-13 criteria provided, single submitter clinical testing

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