ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.3859A>G (p.Ile1287Val)

gnomAD frequency: 0.00242  dbSNP: rs118037378
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442014 SCV000533500 likely benign not specified 2016-11-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000944775 SCV001090755 benign Combined immunodeficiency due to LRBA deficiency 2023-12-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711089 SCV005256227 likely benign not provided criteria provided, single submitter not provided

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