ClinVar Miner

Submissions for variant NM_001242.5(CD27):c.539-6T>C

gnomAD frequency: 0.00086  dbSNP: rs202127301
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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 RCV000898072 SCV001042258 benign Lymphoproliferative syndrome 2 2023-12-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264068 SCV002543352 uncertain significance Autoinflammatory syndrome 2019-08-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940814 SCV004749400 likely benign CD27-related disorder 2019-05-10 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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