ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.808T>C (p.Leu270=)

gnomAD frequency: 0.00004  dbSNP: rs755495143
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001471977 SCV001676101 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2023-12-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277656 SCV001464620 uncertain significance Histiocytic medullary reticulosis 2020-04-13 no assertion criteria provided clinical testing

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