ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.87C>T (p.Thr29=)

gnomAD frequency: 0.00108  dbSNP: rs139085965
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002122904 SCV002409082 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002122904 SCV002498307 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing CLTC: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV002122904 SCV005252850 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003903396 SCV004725882 likely benign CLTC-related disorder 2019-08-07 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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