ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.362+1G>T

dbSNP: rs1564446526
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466817 SCV004190922 pathogenic Histiocytic medullary reticulosis 2022-06-29 criteria provided, single submitter clinical testing
OMIM RCV000004934 SCV000025110 pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency 2001-04-20 no assertion criteria provided literature only

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