ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.3762A>G (p.Lys1254=)

gnomAD frequency: 0.00005  dbSNP: rs111452880
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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 RCV002146103 SCV002455104 likely benign not provided 2024-09-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002146103 SCV005211157 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003923781 SCV004740980 likely benign CLTC-related disorder 2019-09-17 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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