ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.151T>C (p.Leu51=)

dbSNP: rs781559298
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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 RCV001455251 SCV001659009 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2024-01-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706178 SCV005226948 likely benign not provided criteria provided, single submitter not provided

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