ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.13C>T (p.Arg5Trp) (rs201280372)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000501146 SCV000594254 uncertain significance not specified 2016-03-16 criteria provided, single submitter clinical testing
Invitae RCV000634521 SCV000755837 likely benign Dyskeratosis congenita 2019-12-31 criteria provided, single submitter clinical testing
Godley laboratory, The University of Chicago RCV001172451 SCV001250898 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2020-05-18 criteria provided, single submitter clinical testing

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