ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) (rs78870822)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514253 SCV000609821 likely benign not provided 2017-07-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194588 SCV000247128 benign not specified 2015-09-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373238 SCV000407622 likely benign Dyskeratosis Congenita, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000467747 SCV000554103 benign Dyskeratosis congenita 2017-12-25 criteria provided, single submitter clinical testing

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