ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1800T>C (p.Asp600=)

gnomAD frequency: 0.00004  dbSNP: rs199619187
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000933980 SCV001079690 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811541 SCV002047929 likely benign not provided 2021-01-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275797 SCV001461357 uncertain significance Athabaskan severe combined immunodeficiency 2020-02-13 no assertion criteria provided clinical testing

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