ClinVar Miner

Submissions for variant NM_001099274.3(TINF2):c.1003C>T (p.Leu335=)

gnomAD frequency: 0.00011  dbSNP: rs200990844
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000864078 SCV001004831 likely benign Dyskeratosis congenita 2024-07-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816960 SCV002066738 likely benign not specified 2020-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000864078 SCV005516538 likely benign Dyskeratosis congenita 2024-11-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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