ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.930G>A (p.Ala310=)

gnomAD frequency: 0.00001  dbSNP: rs778877023
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819681 SCV002070772 likely benign not specified 2019-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542590 SCV003480348 likely benign Dyskeratosis congenita 2024-03-06 criteria provided, single submitter clinical testing

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