ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1623A>C (p.Thr541=)

gnomAD frequency: 0.00038  dbSNP: rs41300674
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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 RCV000885023 SCV001028445 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2024-01-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272774 SCV001455075 likely benign Histiocytic medullary reticulosis 2020-09-16 no assertion criteria provided clinical testing

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