ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1224G>A (p.Pro408=)

gnomAD frequency: 0.00002  dbSNP: rs532892332
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042662 SCV001206359 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2023-12-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275800 SCV001461361 uncertain significance Athabaskan severe combined immunodeficiency 2020-01-24 no assertion criteria provided clinical testing

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