ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.6046+1886T>C

gnomAD frequency: 0.00138  dbSNP: rs72959815
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593414 SCV000709553 likely benign not specified 2017-06-23 criteria provided, single submitter clinical testing
Invitae RCV000910264 SCV001055116 benign Combined immunodeficiency due to LRBA deficiency 2023-12-30 criteria provided, single submitter clinical testing

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