ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.3515-10C>T

gnomAD frequency: 0.00022  dbSNP: rs200225342
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000634511 SCV000755827 likely benign Dyskeratosis congenita 2024-10-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816575 SCV002072356 uncertain significance not specified 2019-04-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702823 SCV001928507 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702823 SCV001967189 likely benign not provided no assertion criteria provided clinical testing

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