ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.420G>A (p.Ala140=)

gnomAD frequency: 0.00015  dbSNP: rs146832860
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727874 SCV000855374 uncertain significance not provided 2017-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084849 SCV001115041 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272392 SCV001454376 likely benign Athabaskan severe combined immunodeficiency 2019-10-28 no assertion criteria provided clinical testing

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