ClinVar Miner

Submissions for variant NM_003793.4(CTSF):c.214-6C>T

gnomAD frequency: 0.00026  dbSNP: rs376579629
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000675408 SCV001793201 likely benign not provided 2020-06-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27524508)
Labcorp Genetics (formerly Invitae), Labcorp RCV002066987 SCV002393405 likely benign Neuronal ceroid lipofuscinosis 13 2024-11-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675408 SCV000801082 uncertain significance not provided 2015-12-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004754529 SCV005342790 likely benign CTSF-related disorder 2024-04-16 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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