ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.161+16A>C

dbSNP: rs2131168836
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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 RCV002130310 SCV002437518 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2023-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706381 SCV005226947 likely benign not provided criteria provided, single submitter not provided

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