ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.3096A>C (p.Ala1032=)

gnomAD frequency: 0.00004  dbSNP: rs150533662
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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 RCV002119695 SCV002399615 likely benign not provided 2024-05-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968888 SCV004782823 likely benign CLTC-related disorder 2019-08-13 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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