ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.721C>T (p.Pro241Ser)

gnomAD frequency: 0.00688  dbSNP: rs17102311
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460795 SCV000557258 benign Dyskeratosis congenita 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001672786 SCV001890089 benign not provided 2019-12-06 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 21199492, 30964210)
Genetic Services Laboratory, University of Chicago RCV001821321 SCV002069458 benign not specified 2020-11-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672786 SCV005295548 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003972773 SCV004798394 benign TINF2-related disorder 2019-05-02 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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