ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.330C>T (p.Leu110=)

dbSNP: rs768414966
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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 RCV000923500 SCV001068980 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825862 SCV002080894 likely benign Athabaskan severe combined immunodeficiency 2020-09-02 no assertion criteria provided clinical testing

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