ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.3221+13G>C

gnomAD frequency: 0.00041  dbSNP: rs115684610
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515529 SCV001723617 benign Dyskeratosis congenita 2025-01-23 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001515529 SCV002531298 likely benign Dyskeratosis congenita 2021-07-12 criteria provided, single submitter curation

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