ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.774C>T (p.His258=)

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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 RCV003007202 SCV003296831 likely benign Dyskeratosis congenita 2022-10-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004750802 SCV005359799 likely benign CTC1-related disorder 2019-10-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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