ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1437G>C (p.Leu479=)

dbSNP: rs762916677
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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 RCV002187761 SCV002353239 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2023-08-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958542 SCV004779120 likely benign DCLRE1C-related disorder 2019-09-03 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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