ClinVar Miner

Submissions for variant NM_001033855.3(DCLRE1C):c.1964C>T (p.Ser655Leu)

gnomAD frequency: 0.00001  dbSNP: rs775156782
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001294939 SCV001483839 uncertain significance Severe combined immunodeficiency due to DCLRE1C deficiency 2021-08-27 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001507775 SCV001713536 uncertain significance not provided 2019-12-18 criteria provided, single submitter clinical testing

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