ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.1144T>C (p.Leu382=)

dbSNP: rs62344598
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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 RCV000547944 SCV000652605 benign Combined immunodeficiency due to LRBA deficiency 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001535088 SCV001752071 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001535088 SCV005305498 benign not provided criteria provided, single submitter not provided

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