ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.679-6C>T

gnomAD frequency: 0.00009  dbSNP: rs201040496
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000884270 SCV001027636 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2024-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940485 SCV004750856 likely benign DCLRE1C-related condition 2019-05-31 criteria provided, single submitter 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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