ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.819C>T (p.Ala273=)

gnomAD frequency: 0.00004  dbSNP: rs376845893
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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 RCV002077159 SCV002381700 likely benign Dyskeratosis congenita 2025-01-20 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002077159 SCV002536479 likely benign Dyskeratosis congenita 2021-10-25 criteria provided, single submitter curation
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699921 SCV001926556 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699921 SCV001972806 likely benign not provided no assertion criteria provided clinical testing

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