ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1455T>C (p.Asp485=)

dbSNP: rs747435874
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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 RCV001505675 SCV001710583 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2023-11-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832671 SCV002083823 likely benign Athabaskan severe combined immunodeficiency 2020-04-16 no assertion criteria provided clinical testing

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