ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1503T>C (p.Asp501=)

gnomAD frequency: 0.00272  dbSNP: rs41300670
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124665 SCV000168098 benign not specified 2013-06-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000644801 SCV000766516 benign Severe combined immunodeficiency due to DCLRE1C deficiency 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272775 SCV001455078 benign Histiocytic medullary reticulosis 2020-09-16 no assertion criteria provided clinical testing

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