ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1510T>C (p.Leu504=)

gnomAD frequency: 0.00001  dbSNP: rs1213911811
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001505562 SCV001710469 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2023-10-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832669 SCV002095477 likely benign Athabaskan severe combined immunodeficiency 2021-08-20 no assertion criteria provided clinical testing

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