ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.1947+8A>T

gnomAD frequency: 0.00001  dbSNP: rs1273358811
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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 RCV003054368 SCV003330972 likely benign not provided 2024-06-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004731313 SCV005340220 likely benign CLTC-related disorder 2024-09-04 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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