ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.594G>A (p.Pro198=)

dbSNP: rs138120763
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000872459 SCV001014276 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272777 SCV001455086 likely benign Histiocytic medullary reticulosis 2020-09-16 no assertion criteria provided clinical testing

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