ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.4485C>T (p.Gly1495=)

gnomAD frequency: 0.02120  dbSNP: rs11735845
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455631 SCV000539554 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency, silent variant not in splice consensus
Invitae RCV000550244 SCV000652622 benign Combined immunodeficiency due to LRBA deficiency 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000550244 SCV001159206 benign Combined immunodeficiency due to LRBA deficiency 2023-10-19 criteria provided, single submitter clinical testing

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