ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.217-21dup

dbSNP: rs766044503
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515473 SCV001723555 benign Combined immunodeficiency due to LRBA deficiency 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001655751 SCV001865189 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699796 SCV001927051 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699796 SCV001976188 benign not specified no assertion criteria provided clinical testing

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