ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.1359C>T (p.Tyr453=)

gnomAD frequency: 0.00004  dbSNP: rs371189165
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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 RCV001479942 SCV001684250 likely benign Dyskeratosis congenita 2024-11-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965968 SCV004783584 likely benign CTC1-related disorder 2022-04-15 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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