ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.420G>A (p.Ala140=) (rs146832860)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727874 SCV000855374 uncertain significance not provided 2017-06-30 criteria provided, single submitter clinical testing
Invitae RCV001084849 SCV001115041 likely benign Severe combined immunodeficiency due to DCLRE1C deficiency 2019-12-31 criteria provided, single submitter clinical testing

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